RESUMO
We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.
Assuntos
Síndromes Orofaciodigitais/diagnóstico , Síndrome de Costela Curta e Polidactilia/diagnóstico , Adulto , Feminino , Humanos , Recém-Nascido , Síndromes Orofaciodigitais/genética , Síndromes Orofaciodigitais/patologia , Gravidez , Síndrome de Costela Curta e Polidactilia/genética , Síndrome de Costela Curta e Polidactilia/patologiaRESUMO
By fluorometric analysis of fasting phenylalanine and tyrosine plasma levels, we could discriminate classic gene PKU carriers from non-carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non-discriminating. However, we could not determine their carrier status by other accepted testing parameters either (such as phenylalanine dosing). In contrast to the latter, our method: (1) allows for 90% of the population a relatively accurate but more benign test for carriers of the classical PKU gene (requiring only fluorometry on a single fasting blood specimen); (2) identifies the remaining 10% of the population who require the more cumbersome-noxious testing by phenylalanine dosing.
Assuntos
Triagem de Portadores Genéticos , Fenilcetonúrias/diagnóstico , Jejum , Humanos , Fenilalanina/sangue , Tirosina/sangueRESUMO
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion previously described in a multigenerational family that lacks any clinical phenotype. This report shows that a 5p14 deletion does not always lead to a normal phenotype.