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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst
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Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst

机译：I型小头畸形原发性侏儒症（MOPD），伴小脑性头颅和脑囊肿

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摘要

We are reporting a very rare case of primordial dwarfism associated with lissencephaly and brain cyst, in a full term (37weeks) girl, who had extreme low birth weight (580g), delivered vaginally with good APGAR score (6 and 7) at 1 and 5min, respectively. The mother was healthy, para 0+1, 20years old, had previous abortion and had no risk factors for severe intra uterine growth retardation (IUGR). Parents were non consanguineous. Although the baby had extreme low birth weight (ELBW) she did not need any ventilatory support till discharge from the hospital and was discharged home sucking well with weight on discharge 1.2kg. The baby had typical features of primordial dwarfism MOPD type I and to our knowledge this is the first time to report such a rare case from Kuwait. Also the patient had lissencephaly and brain cyst which were not reported previously.
机译：我们报告了一个极少见的病例，该病例与足月龄和脑囊肿相关，在足月（37周）出生的女孩中，出生体重极低（580g），阴道分娩的APGAR评分良好（6和7），分别为1和5分钟。母亲健康，20岁，0 + 1岁，以前曾流产，没有严重的子宫内发育迟缓（IUGR）危险因素。父母不是近亲。尽管婴儿的出生时体重极低，她直到出院才需要任何呼吸支持，并且出院时体重为1.2公斤，吸吮良好。婴儿具有典型的原始侏儒症I型MOPD，据我们所知，这是科威特首次报道这种罕见病例。该患者还患有以前未曾报告的小脑囊肿和脑囊肿。

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