Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant
نویسندگان
چکیده
Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.
منابع مشابه
A Case Report: Nager Acrofacial Dysostosis
Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...
متن کاملAn eighteen month-old infant with Cornelia de Lange syndrome: a case report
Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...
متن کاملگزارش یک مورد سندرم کورنلیا دلانجه
Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...
متن کاملPHACES syndrome with cataract and Horner’s syndrome: a case report
PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.<br /...
متن کاملA Cace Report of Rud Syndrome and Rickets
Rud syndrome consists of mental retardation, epilepsy, ictihyosis, dentition and skeleton defect. We report a case of Rud syndrome that have clinical, radiological and biochemical characteristics of rickets. Alteration in epidermal cholestrol metabolism, limited sun exposure or associated defects may explain this condition. All such patients need life – long rickets prophylaxis with vitamin D s...
متن کامل