Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child.
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Anemia, Aplastic↗
Biomedical subjects
S Gleiser
Publications and source records attributed to S Gleiser.
Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.
We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.
Child↗
Femoral hypoplasia-unusual facies syndrome, from another viewpoint.
A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.
Abnormalities, Multiple↗
Multiple pterygium syndrome.
After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.
Adult↗
Phenotypic and genetic analysis of the silver-Russell syndrome.
A family is reported in which two half-siblings present clinical findings suggestive of the Silver-Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.
Child, Preschool↗