منابع مشابه
Achondrogenesis type I. A familial subvariant?
The clinical, pathological, and radiological features of 2 male sibs with a severe and lethal form of micromelic dwarfism are desribed. The family also includes 2 normal sibs. The histological and radiological appearances suggested a diagnosis of achondrogenesis type I, but the markedly deficient ossification of the skull and the presence of intrauterine rib fractures were atypical. These chang...
متن کاملPrenatal diagnosis of achondrogenesis type I: a case report
INTRODUCTION Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. CASE PRESENTATION The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and 6 days ...
متن کاملAchondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examina...
متن کاملAntenatal diagnosis of achondrogenesis type II.
Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of n...
متن کاملLethal neonatal dwarfism: a case of achondrogenesis.
OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a c...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1977
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.52.3.253