Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
نویسندگان
چکیده
We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.
منابع مشابه
گزارش یک مورد سندرم کارسینوم بازال سل متعدد
Introduction: Nevoid BCC syndrome (Gorline syndrome) is a familial disorder with autosomal dominant inheritense. This syndrome is combination of multiple BCC that occurs at an early age, characteristic faces with: frontal bossing, broad nasal bridge and hypertelorism, jaw cysts, palmoplanter pitting, macrocephaly, skeletal and spinal anomalies include bifid ribes, cervical rib and kyphoscoliosi...
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 کاملHolt-Oram Syndrome: A Rare Variant
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
متن کاملA new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.
Received 4 May 1995 Accepted for publication 1 June 1995 Abstract We describe a girl ofPakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blephar...
متن کاملمقایسه یافتههای آنژیوگرافی عروق کلیوی به روش توموگرافی کامپیوتری چندلایه با یافتههای جراحی در افراد زنده دهنده کلیه
Background: In kidney transplantation decision about the proper kidney donation is different between surgeons, but simple vasculature anatomy and a kidney without abnormalities are the most important reasons of choosing a kidney. Therefore complete assessment of renal vessels of a live donor with noninvasive techniques is a necessity for nephrectomy. For delineation of the kidney vasculature...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Clinical dysmorphology
دوره 14 1 شماره
صفحات -
تاریخ انتشار 2005