Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome
نویسندگان
چکیده
منابع مشابه
Metacarpophalangeal pattern profile analysis in fragile X syndrome.
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample o...
متن کامل[Auditory function in children with Brachmann-de Lange syndrom].
THE AIM The aim of the research work is the evaluation of auditory function in children with rare, genetically determined Brachmann-de Lange syndrome. METHODS Test material came from 18 children (7 girls and 11 boys) between 11 months and 18 years of age with Brachmann-de Lange syndrome who have been diagnosed and treated at ENT Department and Department of Paediatrics, Haematology, Oncology ...
متن کاملReciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.
A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, canno...
متن کاملCornelia De Lange Syndrome and Cochlear Implantation
Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss. Case Report: A 3-year-old boy with CD...
متن کاملCornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn ma...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1993
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320470713