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10.1002/ajmg.1320200409.abs We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate,...
10.1002/ajmg.1320200406.abs We report on a mentally retarded boy with hypogonadotropic hypogonadism. He also had a hypoplastic right kidney and right vesicoureteral reflux, blunted calyses of the left kidney, spina bifida occulta, stiff metacarpophalangeal joints, and cataract of the left eye....
10.1002/ajmg.1320200408.abs The metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome patients and...
10.1002/ajmg.1320200412.abs A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: 1) single gene disorders; 2) chromosomal disorders; 3) complex...
10.1002/ajmg.1320200413.abs A t(X;3) (q26;q13.2) was found in three generations of a family. Female carriers exhibited normal reproductive function, whereas all three postpuberal male carriers showed spermatogenesis arrest at meiosis I. Additionally, a 2 3/12‐year‐old girl had duplication...
10.1002/ajmg.1320200402.abs We report on an infant with the syndrome of Thrombocytopenia with Absent Radii (TAR) with severe lower‐limb involvement. Amegakaryocytic thrombocytopenia was detected at 6 days when the platelet count was 11,000/μL. The platelet count increased steadily to...
10.1002/ajmg.1320200411.abs Dup (6p) patients have a peculiar facial appearance (frontal bossing, hypotelorism, hypoplastic midface), low birthweight, cardiovascular defects, small kidneys, and psychomotor retardation. We thought that a detailed anatomical dissection would more precisely define...
10.1002/ajmg.1320200404.abs Numerous investigators have reported on a low frequency of other anomalies in patients with cleft lip, cleft palate, or both. The data have been somewhat inconsistent, ranging from a 3% to over 30% frequency of associated malformations. However, a recent study...
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