RESUMO
We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.
Assuntos
Anormalidades Múltiplas/diagnóstico , Árabes , Osso e Ossos/anormalidades , Criança , Pré-Escolar , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 22/genética , Deficiências do Desenvolvimento/genética , Anormalidades do Olho/genética , Feminino , Deleção de Genes , Heterogeneidade Genética , Humanos , Hipoparatireoidismo/genética , Deficiência Intelectual/genética , Microcefalia/genética , Transtornos Psicomotores/genética , Convulsões/genética , SíndromeRESUMO
We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.
Assuntos
Disostose Craniofacial , Criptorquidismo , Constituição Corporal , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Pré-Escolar , Disostose Craniofacial/diagnóstico por imagem , Criptorquidismo/diagnóstico por imagem , Feminino , Humanos , Masculino , Radiografia , Tomógrafos ComputadorizadosRESUMO
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.
Assuntos
Anormalidades Múltiplas/etiologia , Adolescente , Anemia/genética , Criança , Consanguinidade , Face/anormalidades , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Pele/patologia , Síndrome , Linfócitos T/patologiaRESUMO
We report a Bedouin family with gerodermia osteodysplastica in which there are two affected female siblings. They have a prematurely aged face with loose and wrinkled skin, joint laxity/dislocation, and osteoporosis. Unusual traits that have not been previously reported in association with gerodermia osteodysplastica were ear anomalies and an abnormal EEG.
