Shalev S A, Shalev E, Reich D, Borochowitz Z U
The Genetics Institute, Haemek Medical Center, Afula, Israel.
Am J Med Genet. 1999 Sep 17;86(3):274-7. doi: 10.1002/(sici)1096-8628(19990917)86:3<274::aid-ajmg15>3.0.co;2-r.
We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.
我们描述了一名患有致死性硬化性骨发育异常的新生儿女孩，该疾病导致产前骨骼改变、小头畸形、眼球突出、鼻和中面部发育不全、小颌、腭裂、牙龈肥大、颅内钙化和全身骨质硬化。我们的患者与先前报道的六名婴儿有显著相似之处，这些婴儿后来被归类为患有一种独特的疾病：雷恩综合征。根据之前的几个病例以及我们患者的父母近亲关系，推测该疾病为常染色体隐性遗传。
