Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?
نویسندگان
چکیده
A stillborn female with Hanhart's syndrome in association with hydrocephalus owing to stenosis of the aqueduct of Sylvius is presented. Neuropathological findings are suggestive of an acquired pathophysiological mechanism.
منابع مشابه
Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly
Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. Some type of intrauterine trauma is the most widely accepted etiology....
متن کاملMoebius syndrome.
Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves (most commonly an abducens paralysis) and often associated with other malformations of the limbs and orofacial structures. The first description of congenital facial diplegia was given by von Graaefe in 18801 and this was soon followed by other reports. Moebius2 3 dre...
متن کاملAglossia-adactylia syndrome.
Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.
متن کاملگزارش یک مورد سندرم دندی واکر در یک نوزاد
ABSTRACT Dandy-Walker syndrom was described by blackfan, dandy in 1914. Dandy-Walker syndrome is characterized by a triad of complete or partial agenesis of the cerebellar vermis, cystic dilatation of the forth ventricle and enlarged posterior fossa with upward displacement of the transvers sinus, tentorium and torcular. The most striking abnormality is the presence of a huge dilated f...
متن کاملHypoglossia Type 1A: report of a case and review of literature with focus on clinical investigations.
Hypoglossia is a rare entity which is reported sporadically. Hypoglossia has often occurred in an association with limb anomalies and, therefore, these cases have been grouped together as hypoglossia-hypodactylia within oromandibular limb hypogenesis syndromes. The literature on this condition is reviewed, and a case of hypoglossia has also been presented. An investigative protocol to aid in th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 7 شماره
صفحات -
تاریخ انتشار 1991