Syndrome of ocular, skeletal & abdominal abnormalities
نویسندگان
چکیده
منابع مشابه
Ocular abnormalities in the amniogenic band syndrome.
Craniofacial and limb abnormalities are characteristic of amniogenic band syndrome. We present the ocular findings of a patient with this syndrome and compare these abnormalities with those in 20 previously reported cases.
متن کاملGoldenhar Syndrome Associated with Bilateral Ocular Choristomas and Cardiac Abnormalities*
*This report presented in 36th National Congress of Turk Ophthalmology Society in October 2002, Ankara, Turkey. This study presents a report on a 14-year-old male with Goldenhar syndrome featuring bilateral epibulbar mass, right hemifacial microsomia, deafness, and right scoliozis. Cardiac disorders including systolic murmur, sinusoidal arrhythmia, and prolapse of mitral valve were detected in ...
متن کاملSkeletal abnormalities of tricho-rhino-phalangeal syndrome type I.
The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The mos...
متن کاملMusculo-Skeletal Abnormalities in Patients with Marfan Syndrome
BACKGROUND A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. METHODS In this article we collect...
متن کاملFilippi syndrome: a new case with skeletal abnormalities.
We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation con...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200001000-00114