All individuals with variants in gene HS2ST1

4 entries on 1 page. Showing entries 1 - 4.
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00320209 Fam1Pat1 PubMed: Schneeberger 2020, Journal: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ? birth 37+3w (Cesarean section), weight 2,345 g (−1.5 z), length 46 cm (−1.5 z), OFC 34 cm (−0.1 z); weight 10.8 kg (−3.4 z), length 101 cm (−2.2 z), OFC 46 cm (−3.4 z); no perinatal complications; severe developmental delay/intellectual disability; no muscular hypotonia, muscle tone increased; delayed motor development; no speech; no seizures; MRI hypoplasia of corpus callosum; disproportionate short stature with short arms; flexion contractures of elbow, hip, and knee joints; short hands and feet with brachydactyly and broad fingertips and toes; bilateral pes adductus; thoracic kyphoscoliosis; barrel-shaped vertebral bodies; narrow spinal canal; kyphosis thoracic spine, scoliosis lower lumbar spine to left due to hemivertebra L5; no urogenital abnormalities; sensorineural hearing impairment; visual impairment; mainly mushy food; prominent forehead, bitemporal narrowing, hypertelorism, bilateral epicanthus, upslanted palpebral fissures, narrow palpebral fissure (left eye), broad nasal tip, wide mouth; submucous cleft palate; low-set, dysmorphic ears; dystrophy 2 1 Johan den Dunnen
00320210 Pat2 PubMed: Schneeberger 2020, Journal: Schneeberger 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no - - - - - - ? birth 38w, weight 3,080 g (−0.5 z), length 50 cm (−0.5 z); 13y-weight 66.4 kg (+1.5 z), height 160 cm (+0.1 z); no perinatal complications; mild to moderate developmental delay/intellectual disability; mild muscular hypotonia; delayed motor development; delayed speech, impaired articulation, speaks sentences; no seizures; MRI delayed myelination; pectus excavatum; genu valgum; broad thumbs and toes; prominent fingertip pads; right clubfoot; bilateral pes planovalgus (arthrodesis); camptodactyly of toes II-V on the right and of toe V on the leftt; babygram small femoral epiphysis; normal spine; unilateral renal agenesis with megaureter and hypoactivity of musculus detrusor; cryptorchidism; normal hearing; mild myopia; normal feeding; coarse face; upslanted palpebral fissures; broad nasal tip; wide mouth; full lips; deep philtrum; small teeth; constipation; two additional nipples 2 1 Johan den Dunnen
00320211 Fam3Pat1 PubMed: Schneeberger 2020, Journal: Schneeberger 2020 2-generation family, 2 affected, unaffected heterozygous carrier parents; fetus - - - - <00y00m00d - - - ? pregnancy termination at gestational week 23+2; oligohydramnios; arthrogryposis with flexion contractures elbows and hips, extension deformities knees; supination both feet; brachydactyly; bilateral pes adductus; broad distal phalanges fingers and toes, especially thumbs and halluces; bilateral renal agenesis; rudimentary bladder; coarse face; wide-set eyes; thin upper and lower lip vermilion; low-set and posteriorly rotated ears 1 2 Johan den Dunnen
00320212 Fam3Pat4 PubMed: Schneeberger 2020, Journal: Schneeberger 2020 son M - - - - - - - ? birth 38+2w (Cesarean section), weight 3,020 g (−0.8 z)), length 47 cm (−1.9 z), OFC 34 cm (−0.7 z); 15d-weight 3.0 kg (−0.9 z), height 47 cm (−2.0 z), OFC 34 cm (−1.1 z)); no perinatal complications; severe muscular hypotonia; no seizures; MRI agenesis of corpus callosum; long trunk; arthrogryposis with flexion contractures of elbows, knees, and hips; shortening of the upper arms with exceeding skin folds; supination of both feet; brachydactyly; bilateral pes adductus; broad distal phalanges of fingers and toes, especially of thumbs and halluces; left kidney agenesis; otoacoustic emissions not present; posterior embryotoxon; hypoplasia of the iris; anterior polar cataract; poor sucking ability; coarse face; broad forehead; bitemporal narrowing; high frontal hairline; fair hair; periorbital fullness; short and upslanted palpebral fissures; prominent infraorbital fold; broad nasal root, bridge and nasal tip; long and deep philtrum; wide mouth; macroglossia; thin upper lip vermilion; everted lower lip vermilion, pointed chin with retrognathia; full and sunken cheeks; short neck; low-set, posteriorly rotated ears with squared superior portion of helices and prominent crus of helices; attached earlobess; capillary hemangiomas on the left side of the face, on the left butt cheek, and of the popliteal fossa 1 1 Johan den Dunnen
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