All individuals with variants in gene ZFX

26 entries on 1 page. Showing entries 1 - 26.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00173453 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 40 Lucy Raymond
00173479 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173525 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173540 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 5 Lucy Raymond
00173579 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173581 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00448144 Pat1 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M - - white - - - - NDD see paper; ..., birth 32w+4 Ceasarean section (severe pre-eclampsia); moderate SNHL; hyperopia and astigmatism; developmental motor delay; 3y6m-walk; fine motor difficulties; developmental delay language; >2y-first words, 3y-2 word phrases; does not speak in sentences, sign language with some words; no autism; no ADHD; play by himself, intolerance to frustration, some anger; no sleep abnormalities; heterogeneous cognitive profile, not possible to calculate total IQ, weak intellectual abilities, 7y-mild intellectual disability; special education; ECG repolarization abnormalities, normal echocardiography; horseshoe kidney, Oxaluria > nephrocalcinosis Left pyelectasis (prenatal); neonatal feeding difficulties (G tube) esophagitis constipation; ipoma; no parathyroid adenoma; no sarcoma; hypotonia; no seizures; low set ears, pointed chin, smooth philtrum, thin upper lip; low set ears; bulging eyes; pointed chin; wide mouth, smooth philtrum, thin upper lip; broad eyebrows medially; hypospadias; bilateral inguinal hernia; squared finger tips, abnormal creases in feet, deep seated nails, joint hypermobility; astham, thoracid kyphosis; oxaluria, ear tubes for recurrent otitis media; cortisol deficiency in infancy (resolved) 1 1 Johan den Dunnen
00448145 Pat2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., birth 41w+3 emergency Ceasarean section; left ear-severeSNHL. right ear - serous otitis media with effusion; conductive hearing loss; vision normal. 2006 - papillary pigmentary changes in the right eye and slight discolouration of the optic disc in both eyes, thought to be within normal limits for his age; developmental motor delay; 2y1m-walk; fine motor difficulties; developmental delay language; 3y6m--first words; 5y4m-speak in sentences, nasal speech, pronuncation difficulties; autism; no ADHD; no sleep abnormalities; 12y-IQ4, 17y-no intellectual disability reported (earlier score may be underperformance related to Autism diagnosis); special education; 3y normal echo; 6y-aortic root dilatation (aortic root 19mm, sino-tubular junction 25mm); 9y-aortic root (sinus 28mm). Atenolol from 9y. Now stable under yearly follow up; Normal; Feeding difficulties (pureed food until 2y; food texture aversion); Seen by endocrine team (17 yo), considering testosterone for delayed puberty. Growth monitoring ongoing. Delayed bone age; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma; hypotonia; no seizures; dysmorphic features; low set and posteriorly rotated ears, dysplastic, thickened helices, large earlobe; down slanting, long palpebral issures. ectropion for temporal aspect of lower lid; bulbus nasal tip; high and prominent forehead, prominant metopic ridge; long face, prominent pointed chin; wide mouth with downturned corners, thin upper lip, smooth philtrum, high palate; high anterior hairline, slow growing scalp hair, fine hair, (2y10m-never),. bilateral temple balding. eyelashes/brows-fine, fair. hair-finally thickened 2012; large anterior fontanelle (22m-open and large), narrow skull, plagiocepahly; hypospadia/bilateral undescended testes/underdeveloped scrotum (hypoplasia) (bilateral orchidopexy); umbilical and inguinal hernia (bilat inguinal hernia repair and repeat left inguinal hernia repair); hyperextensibility of the finger joints, single palmar crease, bendy joints, short toes, small nails, hallux valgus, clinodactyly of 5th toes, scoliosis; required intubation and ventilation at birth but no airway problems generally; delayed tooth eruption and possible extra teeth, teeth serrated and small; born with 1 congenital melanocytic naevus left 5th finger, over time developed red-brown and brown, discrete macules and papules scantily distributed on his face, trunk and limbs, skin soft, pale, translucent, nails short, scars normal, no axillary freckles, sebhorreic eczema of scalp for several years; dacryostenosis (repair) 1 1 Johan den Dunnen
00448146 Pat3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United States white  - - - - NDD see paper; ..., birth 35w vaginal (polyhydramnios); normal hearing; no eye/vision anomalies; developmental motor delay; 3y-walk; fine motor difficulties; developmental delay language; 3y-first words ; speaks in sentences; autism; ADHD; hyperphagia ; no sleep abnormalities; mild intellectual disability; special education; Normal ; Normal ; Feeding problems & vomiting/ pyloric stenosis ; no parathyroid adenoma ; no sarcoma; hypotonia; no seizures; dysmorphic features; epicanthal folds bilateral; pointed chin; wide mouth, thin upper lip; broand and thick eyebrows medially and synophrys; hypospadias, bilateral cryptorchidism ; inguinal hernia ; macroglossia/glossectomy partial, supernumerary teeth and microdontia (?); mild hypogammaglobulinemia ; neonatal cholestasis  1 1 Johan den Dunnen
00448147 Pat4 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents F - United States white  - - - - NDD see paper; ..., birth 39w+5 vaginal; normal hearing, recurrent otitis media s/p tympanostomy tubes; no eye/vision anomalies; no developmental motor delay; 13m15d-walk; no fine motor difficulties; no developmental delay language; 10-first words ; 18m-speak in sentences, 14m-rapid improvement after tympanostomy tubes; autism (mild) ; ADHD, combined type ; generalized anxiety disorder, unspecified eating disorder ; late sleeper throughout life ; very intelligent young woman (IQ120, verbal comprehension 130), Freshman undergrad, hopeful to be neurosurgeon; no special education; Normal; GERD; Yes (hypercalcemia, inappropriately normal PTH); Secondary amenorrhea (hypogonadotrophic hypogonadism; no parathyroid adenoma directed imaging performed ; no sarcoma ; no uterine myoma ; no hypotonia; no seizures; dysmorphic features; Prominant ears; down-slanting palpebral fissures, prominant lashes; prominent and pointed chin; narrow palate (required expander0; thick and broad eyebrows and synophrys; bilateral inguinal hernias (repaired), umbilical hernia; atypical scoliosis (grade 2 spondylolisthesis at L5 relative to S1, L5 bilateral spondylolysis), 22m-large hands & feet, and transverse palmar crease; macroglossia (resolved); facial nevi; 1 1 Johan den Dunnen
00448148 Pat5 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United States Latino - - - - NDD see paper; ..., birth 41w+4 vaginal; normal hearing; myopia, astigmatism; developmental motor delay; 2y-walk; fine motor difficulties; developmental delay language; 5y-first words ; speak in sentences, difficult to understand speech ; autism; ADHD; snores; intellectual disability; special education; bicuspid aortic valve, coarctation aorta, PDA; Normal; Dysphagia, pyloric stenosis; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma; hypotonia; no seizures; dysmorphic features; Posteriorly rotated ears; hypoplastic orbital ridge; bulbous nasal tip; malar hypoplasia; long face; micro/retrognathia, smooth and long philtrum, thin upper lip?; thick and broad eyebrows; scaphencephaly; hypospadias; inguinal and umbilical hernias; wide distal fingertips, sloped shoulders; macroglossia s/p reductionx2; Café au lait macule; Surgical repair of coarctation of the aorta, PDA, pyloric stenosis. Re-repair of an inguinal hernia and hypospadias repair. Adenoidectomy. Multiple ear ventilation tubes for recurrent otitis media 1 1 Johan den Dunnen
00448149 Pat6A PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 3 affected sibs M - Netherlands Europe-W - - - - NDD see paper; ..., birth 39w Ceasarean section( elective, pre-eclampsia) LGA; conductive hearing loss (childhood); mild unilateral SNHL (adulthood); chronic serous otitis media (multiple pe tubes); high myopia; b/l retinal detachment; b/l complete absence sphincter pupillate; developmental motor delay; 2y-walk; fine motor difficulties  ; developmental delay language; 2y-first words ; 3y-speak in sentences; no autism; ADHD; anger/ frustration, obsessive traits in childhood,  challenging behavior (when older); sleep frequent waking, night terrors ; FSIQ 60 ; special education, secondary school ; Enlarged kidneys but then normal. Thickened bladder wall ; No; Hypogonadotropic hypogonadism; secondary osteopenia; no tumors; no parathyroid adenoma ; no sarcoma ; no uterine myoma ; hypotonia; seizures (generalized, complex partial seizures); EEG abnormal; dysmorphic features, coarse facial features; Prominant ears; left ear pits (posterior); dimples ear lobes; uplifted ear lobes; downslanting palpebral fissures; periorbital fullness; broad nasal tip; overhanging columella; bitemporal narrowing; long, grooved chin; smooth long philtrum, thin upper lip, high arched palate, thickened gums , crossbite; broad eyebrows (thickend medially and sparse laterally), fair and fine hair, hair whorl; hypospadias, unilateral cryptorchodism; right inguinal hernia, umbilical hernia; joint limitations elbows, knees, small joints hands, short 4th MT, overriding toes 4-5, spindle shaped fingers, small toe nails, thoracic scoliosis, platyspondyly and irregular end plates, Hyperlaxity DIP joints, deep-set hyperconvex toe nails, hallus valgus, large fleshy hands; supernumerary teeth, macroglossia (tongue reduction) ; soft skin, keratosis pilaris, hypotrichosis (HH), few melanocytic naevi, nevus flameus (forehead); excessive drooling (surgery for salivary gland >dry mouth), tonsillectomy and adenoidectomy; DEXA scan osteoporosis (Z -2.8) 1 3 Johan den Dunnen
00448150 Pat6B PubMed: Shepherdson 2024, Journal: Shepherdson 2024 sib M - - Netherlands;Scotland - - - - NDD see paper; ..., birth 39w+3 vaginal; hearing aides, mild to moderate SNHL, chronic serous otitis media as a child (pe tubes); glaucoma left > right, no retinal problems ; developmental motor delay; 21m-walk; fine motor difficulties ; developmental delay language; 18m-first words ; 4y-speak in sentences, Makaton signing therapy prior to KG, articulation problems; no autism ; no ADHD ; agression / frustration, obssesive traits when younger; obstructive sleep apnea (T&A), frequent waking as a child ; FSIQ 67 ; special education; PDA, PFO with pulmonary hypertension (neonatal); Enlarged kidneys as a neonate; normal renal ultrasound in childhood; Normal; Pyloric stenosis; Delayed puberty; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma ; hypotonia, resolved in early childhood; no seizures; dysmorphic features, coarse facial features; Fleshy ears with overfolded helices, pits on back of ear lobes; uplifted ear lobes; epicanthal folds; depressed nasal bridge; bulbous nasal tip; hanging columella; metopic ridging; pointed chin; wide mouth, smooth and long philtrum, thin upper lip, prominant chin, thickened gums; broad and thick eyebrows (sparse laterally), synophrys, long and thick eyelashes, low posterior hairline, fair hair, anterior hair whorl; hypospadias, cryptorchidims   ; left inguinal hernia, umbilical hernia; scoliosis, joint limitation elbows and small joints, fleshy hands, hypoplastic toe and finger nails,deep-set hyperconvex toe nails, short 4th metatarsal bilaterally, 4th toes override 5th toes bilaterally, mild 3-4 finger syndactyly, mild pectus excavatum; supernumerary teeth, macroglossia; varicose veins legs and arm, capillary hemangioma on neck, 3 cafe au lait macules, other pigmentary changes, melanocytic nevi, keratosis pilaris; tonsillectomy and adenoidectomy; normal puberty, normal DEXA 1 1 Johan den Dunnen
00448151 Pat6C PubMed: Shepherdson 2024, Journal: Shepherdson 2024 sib F - - Netherlands;Scotland - - - - NDD see paper; ..., birth 38w Ceasarean section (emergency, fetal macrosomia and polyhydramnios); normal hearing; astigmatism; no developmental motor delay; 18m-inturned feet-surgery one foot; no fine motor difficulties; developmental delay language (mild); 12m-first words ; 3y-speak in sentences; no autism; no ADHD; anger & frustration (younger and teenager and ongoing) ; neonatal obstructive sleep apnea (d/t macroglossia)-resolved; mainstream primary school, aide part time, learning difficulties maths ; no cardiac anomalies; GERD (1st year of life); endocrine abnormalities; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma ; mild hypotonia; no seizures; coarse facial features; left cuped ear; epicanthal folds, telecanthus; nose depressed nasal bridge, bulbous nasal tip, thickened alar nasi, hanging columella; metopic ridging; coarse facial features, pointed chin; smooth long philtrum, thin upper lip; broad and thick eyebrows, synophrys, fair hair; no hernia; fleshy hands, spindle shaped fingers, short 4th MT , deep set, hyperconvex and upslanting nails and distal phalanges, L, metatarsus adductus (surgery), mild large joint laxity.; macroglossia; multiple melanocytic nevi, soft skin, naevus simplex (forehead); menorrhagia > iron deficiency 1 1 Johan den Dunnen
00448152 Pat7 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - Japan Malay  - - - - NDD see paper; ..., birth 38w vaginal; tympanometry type b bilaterally ; no eye/vision anomalies; developmental motor delay; 2y-walk; 3y-feed self; developmental delay language; 1y3m-first words; does not speak in sentences; no autism ; no ADHD ; tantrums ; no sleep abnormalities ; mild intellectual disability; special education; no cardiac anomalies; mild splaying of bilateral renal pelvicalyceal system; MRI brain subacute left parietal and posterior fossa subdural hemorrhage, right parieto-occipital subarachnoid hemorrhage, bilateral choroid plexus cyst; poor sucking (orogastric tube during 1y), GERD; no endocrine abnormalities ; no tumors ; no parathyroid adenoma; no sarcoma; hypotonia; no seizures; dysmorphic features; wide helices ears; downslanting palpebral fissures; prominent forehead; full saggy cheeks; thin upper lip, prominent jaw; broad and thick eyebrows, synophrys,hirsute at the back; prominent coronal sutures, delayed closure of anterior fontanelle; bilateral inguinal hernia, umbilical hernia; scoliosis, increased creases on soles, pectus carinatum, lax finger joints, hallux valgus bilaterally; mid tracheal stenosis, laryngomalacia requiring nCPAP in infancy, 3m-arytenoid release surgery; macroglossia, cleft palate; widened scar 1 1 Johan den Dunnen
00448153 Pat8 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United States white - - - - NDD see paper; ..., birth 35w Ceasarean section (oligohydramnios, FGR low biophysical profile); conductive hearing loss (hearing aids); recurrent ear infection (tubes); strabismus (2 surgeries); myopia & astigmatism; bilateral posterior polar cataracts; developmental motor delay; 4y-walk; very delayed fine motor difficulties (4y6m-utensils); developmental delay language; no speech; no speech; autism; no ADHD; involuntary movements and vocalization, aggression, agitation, bruxism; obstructive sleep apnea; moderate intellectual disability; special education; congenital anomalies; PDA, trivial TVR, Ao coarctation > dilated ascending aorta; bilateral nonobstructing renal calculi; MRI brain normal; GERD, feeding difficulties; constipation, G-tube placement and Nissen fundoplication; endocrine abnormalities; tumors; no parathyroid adenoma; hyperparathyroidism; hypotonia (truncal>appendicular); no seizures; low anterior hairline, smooth and long philtrum, thin upper lip, micrognathia, thickened helices with asymmetric ears that were relatively large; thickened helices with asymmetric ears, relatively large ears; broad forehead with metopic ridging; smooth and long philtrum, thin upper lip, micrognathia; low anterior hairline , arched eyebrows that are mildly broad medially; small phallus and scrotums, retractable testes; umbilical hernia, inguinal hernia s/p repair; Squared finger tips with symmetric abnormal creases in feet, deep seated toenails, hallus valgus deformity, pectus excavatum, limitataion in elbow joint; tracheostomy-dependent; pierre-robin sequence (s/p cleft palate repair) 1 1 Johan den Dunnen
00448154 Pat9 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents rF - United States Europe;Indian-Ojibwa;French-Canadian - - - - NDD see paper; ..., birth 38w induced vaginal; mixed conductive and SNHL (bilateral hearing aids); eustachian tube dysfunction; myopia, dry eye syndrome, blurry vision; developmental motor delay; 15m-walk; fine motor difficulties; developmental delay language; articulation problems; Autistic features; ADHD; increased sensitivity to sound and loud noises and certain textures, does not like being touched, anxiety disorder, depression; obstructive sleep apnea (CPAP); 10y-neuropsychology evaluation general intellectual abilities were average (IQ=100), relative weaknesses in visuo-motor coordination and executive functioning skills related to planning and decision-making; no special education; no congenital anomalies; cardiac echo normal, borderline prolonged QT; normal renal ultrasound; MRI brain normal; cyclic vomiting, gastroparesis, irritable bowel syndrome, GERD, constipation, recurrent rectal prolapse; post-operative hypothyroidism (s/p total thyroidectomy); 15y-parathyroid adenoma after neck mass removed, histology consistent with a parathyroid adenoma; no sarcoma; no uterine myoma; low risk papillary thyroid microcarcinoma, non-metastatic, in the context of thyroidectomy with thyroiditis (remnant ablation when pt was 13 yo). Hepatic adenoma; no hypotonia; no seizures; dysmorphic features; prominent ears, simple outer helix with unusual skin creases (appear similar to cutis aplasia); relatively long palpebral fissures, down slanting, hooded eyelids , possible hypertelorism; nose prominent tip, long columella; asymmetric face; long philtrum, thin upper vermillion; macrocephaly; hiatal hernia, umbilical and epigastric hernias (3.5m-repaired); chronic pain disorder related to EDS and joint dislocations, Beighton score=6/9; hemangioma of subcutaneous tissue, recurrent lymphatic malformation excision from his left axilla, nevus excision from his scalp, and confirmed lymphatic malformation from right palm, several skin tags, 3 atypical cafe au lait spots, dermoid leion on scalp; idiopathic intracranial hypertension, migraine headache, tremor, pots (chronic dizziness, chronic fatigue and weakness), chronic hoarseness, mild-moderate obstructive breathing pattern, proteinuria, likely has intermittent anemia of inflammation 1 1 Johan den Dunnen
00448155 Pat10 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United States Afghanistan;Pakistan - - - - NDD see paper; ..., birth 35w induced; normal hearing; congenital nystagmus ; developmental motor delay; 2y-3y-walk; fine motor difficulties; developmental delay language; 2y-<10 utterances (not true words), 2y-4y-developed words ; 10y-speaks mostly in 4-5 word phrases ; no autism; ADHD (inattentive type) ; no sleep abnormalities; FSIQ ~40s, mild-moderate intellectual disability; mesocardia, restrictive VSD (closed) ; bilateral hydronephrosis and pelviectasis (resolved) ; MRI brain hypoplastic corpus callosum (previous bilateral subdural hematomas) ; no endocrine abnormalities ; no tumors; no parathyroid adenoma; no sarcoma; no hypotonia; no seizures; dysmorphic features; epicanthal folds, short and upslanting palpebral fissures; long nose, prominent columella; long face; relatively indistinct philtrum; laterally sparse and medially full eyebrows, marked synophrys; turricephaly; cryptorchidism; inguinal hernia ; postaxial polydactyly (both feet) ; elevated phosphoethanolamine (normal alkaline phosphatase)  1 1 Johan den Dunnen
00448156 Pat11 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - Puerto Rico;Germany;Scandinavia - - - - NDD see paper; ..., birth 37w Ceasarean section; normal hearing; strabismic amblyopia (left eye) & superior oblique palsy (right eye) ; developmental motor delay (resolved); 18m-walk, difficulty with walking up stairs in the past, received PT (resolved); fine motor difficulties; developmental delay language; 2y-first words (8m-9m-babbling) ; speaks in sentences; no autism; no ADHD ; no sleep abnormalities; borderline to low average intellectual disability, full scale IQ of 76 (5th percentile, 95% confidence interval 71-83); no special education; small muscular VSD (closed); moderate bilateral hydronephrosis and pyelocalicetasis (first year of life); functional constipation and overflow soiling, h/o feeding difficulties NG tube for 1m; no parathyroid adenoma; no sarcoma ; 9y-palpable lump right popliteal region; bilateral superficial varicosities without evidence of thrombophlebitis; no hypotonia; no seizures; dysmorphic features; cupped ears (left > right) low set ears, posteriorly rotated ears; nose asymmetric leftward deviation; prominent forehead; asymmetric long face; high palate, thin upper lip, smooth philtrum; hypertrichosis of forehead, thick hair, low anterior & posterior hairline, synophyrs, thick and broad eyebrows; neck appears short and asymmetric with prominent right posterior musculature; bilateral inguinal hernias (1y-repaired); elbows with slight decreased extension, Jagged nail edges; retained baby teeth; 1m-NICU stay (low apgar scores), bilateral ventilation tubes, tonsillectomy and adenoidectomy 1 1 Johan den Dunnen
00448157 Pat12 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white  - - - - NDD see paper; ..., birth 38w+5 vaginal; hyperacusis – glue ear ; optic nerve hypoplasia ; nystagmus; mild visual impairment (reads braille at reception level); developmental motor delay; 1y11y-walk; fine motor difficulties, 22m-pincer grip; developmental delay language; 2y6m-first words; 4y-speak in sentences, continues poor pronunciation, uses PECS cards; Autistic features; no ADHD ; over-friendly, doesn’t understand social norms; sleep abnormalities, takes melatonin ; attends special school; normal renal ultrasound; MRI brain thin optic chiasm/optic tracts with slightly small pituitary gland &some periventricular leukomalacia, retrocerebellar arachnoid cyst; growth hormone deficiency, 5y-treatment started; no parathyroid adenoma ; no sarcoma ; hypotonia; no seizures; dysmorphic features; epicanthal folds; blepharophimosis; downslanting plapebral fissures; depressed nasal bridge in infancy; long smooth philtrum, macroglossia; broad eyebrows medially; Wide feet requiring specialist footwear.  Deep palmar crease, Small deep-set nails; tongue protrusion ; food allergies - intermittent diarrhea, worse after milk, fish and soya 1 1 Johan den Dunnen
00448158 Pat13 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white  - - - - NDD see paper; ..., birth 33w Ceasarean section;  bilateral moderate conductive hearing loss; ‘partial albinism’ - can’t find ophthalmology notes to corroborate this; developmental motor delay; 2y3m-walk; mild fine motor difficulties; developmental delay language; 16m-first words; speak in sentences, 12y-reported poor intelligibility, 8y-12y-full sentences; no autism; no ADHD; no sleep abnormalities; verbal and non-verbal IQ in 3-4 y range at 12y3m, attended special education school, now in college (life skills), sense of humor; special education; large PDA, small ASD (both closed); normal renal ultrasound; 2m-MRI brain delayed myelination; pyloric stenosis; 11y-benign suprarenal ganglioneuroma removed; mild hypotonia (central); no seizures; dysmorphic features; slightly cupped ears with up-lifted lobes; Long palpebral fissures; broad forehead; pointed chin; thin upper lip, smooth philtrum, micrognathia; blond hair, eyebrows and eyelashes, low posterior hairline, think and broad eyebrows medially; short broad neck; hypospadias; bilateral inguinal herniae, small umbilical hernia; short feet, deep set toe nails, mild ulnar deviation of left 3rd&4th fingers, persistent finger fetal pads bilaterally. 4th toes are proximally placed. Hallux valgus and thick soles, mild restriction of elbow extension bilaterally; crowded teeth, pointed upper incisor; giant cell hepatitis with cholestasis in early childhood, transfusion dependent anemia-resolved; recurrent infections with mild IgG and IgM deficiency (resolved when older, continue to follow with immunology) 1 1 Johan den Dunnen
00448159 Pat14 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents F - United States white - - - - NDD see paper; ..., birth 38w Ceasarean section; normal hearing; nearsightedness; developmental motor delay; 2y6m-walk; fine motor difficulties; no developmental delay language; 10m-first words ; 13m-2-3 word phrases; no autism; no ADHD; sleep snoring; no intellectual disability (very intelligent); no special education; VSD (closed); normal renal ultrasound; MRI brain pituitary stalk interruption syndrome with ectopic anterior and posterior pituitary gland, 3y-similar appearance of upper cervical spinal stenosis; pituitary hypoplasia; Short stature and started on GH therapy; no parathyroid adenoma; no sarcoma; no uterine myoma; hypotonia; no seizures; dysmorphic features; small left ear preauricular tag; epicanthal folds; low nasal bridge, upturned and wide nasal tip, wide nares; frontal bossing; mild midface hypoplasia; smooth and long philtrum; broad eyebrows medially, sparse and slow-growing hair; relative macrocephaly, dolicocephalic; sacral dysgenesis, developmental dysplasia hip, mild pectus excavatum, spatulate fingers 1 1 Johan den Dunnen
00448160 Pat15 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United Kingdom (Great Britain) white - - - - NDD see paper; ..., birth 36w Ceasarean section (poor movement); bilateral SNHL (aids-->cochlear implants); optic nerve damage initially throught to be from intracerebral haemorrhage (5y), wears spectacles, 10y-further dterioration with optic atrophy; developmental motor delay; 2y-walk; poor fine motor difficulties, SARA score of 11 (mild incoordination); developmental delay language; 2y-first words; 9y-10-speak in sentences, still limited; Autistic traits; no ADHD; no sleep abnormalities; special education; nephrocalcinosis; 4y/11y-MRI brain macrocephaly, bilateral subdural hygroma resolution, slim corpus callosum, generalized lack of white matter, multiple enlarged perivascular spaces, mega cisterna magna;  ; no parathyroid adenoma; no sarcoma; hypotonia; seizures as baby, now occasional abscences; dysmorphic features; downslanting palpebral fissures; depressed nasal bridge; frontal bossing ; high arched palate; macrocepahly; hypospadias; inguinal hernia; tapering fingers 1 1 Johan den Dunnen
00448161 Pat16 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - Denmark white - - - - NDD see paper; ..., birth 38w vaginal; normal hearing; no eye/vision anomalies; developmental motor delay; 14m-walk; fine motor difficulties; developmental delay language; 3y-speaks in short sentences; autism; no ADHD; no sleep abnormalities; WISC IQ=74; normal school without special help, family applying for special education; congenital anomalies; no cardiac anomalies; right-sided hydronephrosis with pelviouretheral obstruction, slightly dilated pelvis left side as well as a slightly dialted urether, urethero-vescial obstruction suspected, 4y-surgery right side; MRI brain slightly prominent choroid plexus in the lateral ventricles with calcifications interpreted as a normal variation; no endocrine abnormalities; no tumors; no parathyroid adenoma; no sarcoma; no uterine myoma; no hypotonia; no seizures; dysmorphic features; large ears; downslanting, narrow palpebral fissures; long and big nose, big nostrils; narrow face; thin upper lip, long, almost flat philtrum; broad thick eyebrows; long arms, large and "coarse" hands (especially of the joints with "clubbing" and widening of finger tips), arachndocatyly of toes, mild hallux valgus, deep set hyperconvex finger nails; macroglossia 1 1 Johan den Dunnen
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