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10.1002/ajmg.1320590204.abs We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face,...
10.1002/ajmg.1320590210.abs We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus‐like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face...
10.1002/ajmg.1320590209.abs Multiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1→qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21,...
10.1002/ajmg.1320590213.abs Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin‐embedded muscle biopsies was analyzed in 12 of the 26 patients studied....
10.1002/ajmg.1320590211.abs X‐linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies...
10.1002/ajmg.1320590223.abs We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern...
10.1002/ajmg.1320590217.abs We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no...
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