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Limb / pelvis hypoplasia / aplasia [Al-Awadi / Raas-Rothschild] syndrome in three new Kuwaiti patients: Clinical and radiological description
Egyptian Journal of Medical Human Genetics [The]. 2004; 5 (1): 59-68
Dans Anglais | IMEMR | ID: emr-65722
ABSTRACT
This study describes three new patients in 2 Kuwaiti families having AI-Awadi/Raas-Rothschild syndrome. The cases had intercalary and distal limb reduction malformations, hypoplastic pelvic bones [LPAH syndrome] and unusual facial features. Clinical examination, skeletal survey, echocardiography, ultrasonography of head / abdomen, chromosomal study and FISH technique were done. The patients were 2 males and a female, having prenatal and postnatal growth delay. Two cases had capillary hemangiomata, sparse / brown hair, short nose, dysplastic / flabby ears and retrognathia. Symmetric limb reduction defects, phallus and clitoris enlargement have been found. The 1[st] case had balanced, reciprocal translocation, t [1,3][q32q21], while the 2[nd] and the 3[rd] cases had normal karyotype. Skeletal survey showed variable limb reduction defects in the three cases. The patients share in common the severe pelvic hypoplasia, symmetric limb reduction defects, normal mentality and recessive mode of inheritance. These 3 new Kuwaiti families are added to the previously reported families in Kuwait Medical Genetics Center [KMGC]
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Indice: Méditerranée orientale Sujet Principal: Phénotype / Syndrome / Radiographie / Membres / Face Type d'étude: Enquête cas-témoins / Études cas/témoins Limites du sujet: Femelle / Humains / Mâle langue: Anglais Texte intégral: Egypt. J. Med. Hum. Genet. Année: 2004

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Recherche sur Google
Indice: Méditerranée orientale Sujet Principal: Phénotype / Syndrome / Radiographie / Membres / Face Type d'étude: Enquête cas-témoins / Études cas/témoins Limites du sujet: Femelle / Humains / Mâle langue: Anglais Texte intégral: Egypt. J. Med. Hum. Genet. Année: 2004