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10.1002/ajmg.1320370408.abs An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating...
10.1002/ajmg.1320370428.abs We present the second case of monochorionic diamniotic (MC/DA) conjoined twins. There was minimal conjunction, which was predominantly extrafetal and confined to the periumbilical ventral region. The omphalopagus twins, attached to a single forked umbilical cord, were...
10.1002/ajmg.1320370433.abs Sonography permitted the diagnosis of Fraser syndrome (cryptophthalmos‐syndactyly syndrome) at 18.5 weeks of gestation in a fetus whose parents had had a previous affected child. The karyotype of that child was 46,XX,inv(9)(p11q21); the karyotype of the...
10.1002/ajmg.1320370434.abs Urine from patients with classical and atypical forms of juvenile ceroid‐lipofuscinosis (CL) was analyzed for the presence of diseasespecific peptides. Two distinct peptide paterns were recognized on lithium dodecyl sulfate polyacrylamide gel electrophoresis in...
10.1002/ajmg.1320370425.abs Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15‐year‐old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for...
10.1002/ajmg.1320370427.abs We report on monozygotic (MZ) twins who were discordant for phenotypic sex and UIIrich‐Turner syndrome (UTS). The nonviable female was hydropic with cystic hygromas, ventricular septal defect, bicuspid aortic valve, polysplenia, intestinal malrotation, and small...
10.1002/ajmg.1320370404.abs We report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the...
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