All individuals with variants in gene PRKD1

6 entries on 1 page. Showing entries 1 - 6.
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00374056 Fam2 PubMed: Shaheen 2015 4-generation family, 2 affected sisters F yes Saudi Arabia - - - - - ? uneventful pregnancy; 1d-heart murmur, cardiomegaly on chest X-ray, ECG-truncus arteriosus type I; uneventful surgical repair, asymptomatic since; 16y-no dysmorpy or any other systemic manifestations; 16-year-old sister with identical history 1 2 Johan den Dunnen
00374058 268276/DDDP107179 PubMed: Sifrim 2016 - M - United Kingdom (Great Britain) - - - - - CHD birth 40w, weight 2400 gg (SD -2.48); hypoglycaemia, jaundice and hypothermia; 8w-social smile, 7m-sit, 9m-walk, 11m-first words; height 108.5 cm (SD -0.24), weight 18.9 kg (SD 0.12), OFC 48.7 cm (SD -2.69); pulmonary valvar abnormality; sparse scalp hair; premature loss of primary teeth; delayed speech and language development; microcephaly; bilateral conductive hearing impairment; broad thumb, short digit; dry skin; ectodermal dysplasia, Lipson syndrome; feeding difficulties 1 1 Johan den Dunnen
00374059 261674/DDDP107434 PubMed: Sifrim 2016 - M - United Kingdom (Great Britain) - - - - - CHD birth 33w, weight 1770 grams (SD -0.83); 2-2.5y-walk; length 121 cm (SD -0.08), weight 44.3 kg (SD 3.77), OFC 50.7 cm (SD -1.81); atrioventricular septal defect; prominent forehead, prominent nasal bridge, disorganised left eyebrow with both medial and lateral flare, anteverted nares, full lips, wide-spaced teeth; global developmental delay; motor delay; specific learning disability; attention deficit hyperactivity disorder; microcephaly, Arnold-Chiari type I malformation, microcephaly; nystagmus 1 1 Johan den Dunnen
00374060 263568/DDDP107562 PubMed: Sifrim 2016 - M - United Kingdom (Great Britain) - - - - - CHD birth-41w, weight 3685 grams (SD 0.27); abnormality of prenatal development or birth; 5w-social smile; OFC 56 cm (SD 2.19); trioventricular septal defect; sparse scalp hair, high anterior hairline, brachycephaly, depressed nasal bridge, small, widely spaced teeth, Frontal bossing; thoracic cavity stridor; deep plantar creases, 2-3 toe syndactyly, ifnger syndactyly; fragile nails, thin skin, pigmented nevi; scoliosis; generalized hypotonia; asogastric feeding 1 1 Johan den Dunnen
00374061 PatA PubMed: Alter 2021 - - - Spain - - - - - ? interauricular communication (ostium secundum) 7y-spontaneous closure, pulmonary stenosis, mild tricuspid insufficiency; depressed nasal bridge, protruding tongue; hypotrichosis, sparse eyebrows; dental abnormalities; black spots in deciduous teeh, absence of several pieces of permanent teeth; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; normal vision, scleral telangiectasia; chronic median otitis, no hypoacusia; arteriovenous fistula in the lingula; nephrocalcinosis; medullary sponge kidney; short thumbs, brachydactyly, shortened metacarpal bones (esp 3rd finger).No X ray from hands available, first toes short and laterally bended. Recurrent patellar luxation left knee, chronic venous insufficiency left limb; generalized teleangiectasia; sternal deformity with marked angulation of the median third of the sternal body and prominence of the third arch bilaterally; scoliosis, right convexity; maxillary and mandibular atrophy; joint hypermobility; autoimmune thyroiditis (TSH 7.17; antiperoxidase Abs >1300,00); persistent hypocalcemia and hypomagnesemia; hypercalciuria and hypocitraturia; low vitamin D 18 (VN 30-100), elevated PTHi 73 (VN 12-65); inonized calcium 1.08 mmol/L (VN 1.15-1.29) 1 1 Johan den Dunnen
00374062 PatB PubMed: Alter 2021 - - - Germany - - - - - ? pulmonary valve stenosis; thin, sparse hair; sparse eyebrows; deep set prodruding ears; high palate; premature loss of primary teeth, reduced number of permanent teeth, permanent teeth with short roots; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; no neuromuscular abnormalities; 2y-recurrent ear infections, partial; destruction of the right ear due to cholesteatoma; short thumbs and short first toe, brachydactyly; X-ray; 8y5m-short and broad metacarpalia 1 & 3-5, dysplastic metaphyses and epiphyses of metacarpalia 3-5, short distal phalanges, cone epiphyses (MC 1, MP 2 and 5), brachymesophalangy 2 & 5, partial syndactyly toe 2-3; thin translucent skin X-ray of the spine: flattened vertebral bodies with prominent pedicles; parathormone: 9,9 (range 1-7) pmol/l on two occasions 1 1 Johan den Dunnen
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