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Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (1): 131-133
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-86380


This report describes a Kuwaiti boy with Acrodysostosis. This disorder is characterized by short nose, open mouth, prognathism and short hands/feet. Mental deficiency is frequent and cone epiphyses occur in this condition. Clinical examination, skeletal survey, echocardiography, ultra-sonography and chromosomal analysis were carried out. On examination he had short stature mainly acromelic and the hands did not show the trident sign of dyschondroplasia. He had also a characteristic facies with broad/flat nasal bridge, short nose with upturned nostrils, congenital heart [VSD] and mental retardation. Radiographic examination showed acromelia, cone-shaped epiphyses of bones of hands/feet and scoliosis of thoracolumber region of the spine. CT-scan brain showed mild ventriculomegaly and brain atrophy. Our patient could be a typical case of acrodysostosis with auto-somal dominant mode of inheritance

Humanos , Masculino , Deficiência Intelectual , Articulação Metacarpofalângica/anormalidades , Encéfalo/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Análise Citogenética , Bandeamento Cromossômico
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 83-88
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-76551


Herein, we describe the molecular defects in the Norrie disease [ND] gene in a Kuwaiti Bedouin family with three affected sibs. Norrie disease is a rare X-linked recessive disorder, characterized by congenital blindness, malformed retina, psychomotor delay and deafness in a proportion of patients. We analyzed the genomic DNA through polymerase chain reaction [PCR] and restriction fragment length polymorphism [PCR-RFLP] approach. We have found the presence of R121W mutation within exon 3. We have identified a single base pair substitution [C>T] mutation of ND gene

Humanos , Masculino , Genes Recessivos/genética , Transtornos Psicomotores , Surdez , Impressões Digitais de DNA , Reação em Cadeia da Polimerase , Mutação de Sentido Incorreto
Annals of Saudi Medicine. 2004; 24 (6): 476-479
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-65298
Egyptian Journal of Medical Human Genetics [The]. 2004; 5 (1): 97-102
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-65725


This report describes a case of osteopathia striata with cranial sclerosis [OS-CS] in a Bedouin girl. This patient to our knowledge is the first case to be reported in KMGC, throwing light on the clinical and radiological findings. Clinical examination, skeletal survey, echocardiography, ultrasonography and chromosomal study. The patient had craniofacial dysmorphic features including overgrowth of the craniofacial bones which is characteristic of the disorder, developmental delay, hearing impairment, congenital heart [VSD] and she had also repeated attacks of seizures. Radiographic findings included marked ossification and sclerosis of the base of the skull and metaphyseal widening of long bones with linear striations. In the few reported cases of OS-CS all over the world, our case could have the typical form of the syndrome with dominant inheritance and the first case to be described in Kuwait

Humanos , Feminino , Cardiopatias Congênitas , Surdez , Deficiências do Desenvolvimento , Convulsões , Aberrações Cromossômicas