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We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, “coarse” facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of...
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular‐shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement...
Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal‐dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature. Am. J. Med....
A ring chromosome 7 was found in a 19‐month‐old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. Absent sacrum is a frequent finding in patients with 7q terminal deletions; in fact, genes involved in the sacral agenesis are localized in...
Most Noonan syndrome (NS) families are compatible with autosomal dominant inheritance with predominance of maternal transmission. Sporadic patients can be explained by new autosomal dominant mutations. Here we report four Dutch NS patients, two male and two female, each with unaffected...
This study presents a family with a syndromic form of X‐linked mental retardation in which four males in two generations present severe mental retardation, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Multipoint linkage analysis with 24 highly polymorphic...
Recurrence of trisomy 21 was observed in a family in which both parents had a normal chromosome complement. Mosaic trisomy 21 was found in a blood karyotype of the first child, a second pregnancy ended in spontaneous abortion, and a full trisomy 21 was found at prenatal diagnosis of the third...
Hirschsprung disease (HSCR; McKusick 142623) or aganglionic megacolon is a frequent (1 in 5,000 live births) heritable disorder of the enteric nervous system. By haplotyping with a variety of microsatellite markers, by amplifying all 20 exons of the RET proto‐oncogene and by applying a direct...
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