CONGENITAL FAMILIAL DWARFISM WITH CEPHALOSKELETAL DYSPLASIA
CONGENITAL FAMILIAL DWARFISM WITH CEPHALOSKELETAL DYSPLASIA
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DOI：
10.1148/89.2.275
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发表时间：
1967-01-01
期刊：
影响因子：
19.7
通讯作者：
LINDER, D
中科院分区：
文献类型：
--
作者：
TAYBI, H;LINDER, D
Intrauterinegrowth retardation with or without microcephaly or with other anomalies of the central nervous system has been the subject of many studies and medical publications (9). A growing interest in the determination of basic causes of skeletal dysplasia in recent years has resulted in newer attempts at clinical and roentgen classification, biochemical studies, and genetic evaluations of these disorders (3, 5, 6).In this communication, the cases of two siblings with low birth weight, brain dysgenesis, and generalized skeletal dysplasia are presented and the differential diagnosis is discussed.Case ReportsThe parents of the patients presented in this communication are first cousins of Italian origin. The father was thirty-eight years old and the mother eighteen years of age when their first child was born. The product of the first pregnancy was a normal male, born in January 1956. The product of the second full-term pregnancy was a male infant with a birth weight of 980 g and a length of 33 cm. This patient was born in December 1956, in another hospital. The infant, who had microcephaly, a lumbosacral meningomyelocele, horse-shoe kidney deformity, and webbed toes, died on the thirteenth day of life. Histologically, there was intracanalicular biliary stasis. The fourth child, a female, appears to be normal physically and mentally. The third and fifth children represent Cases I and II of this report.No other relatives have been known to have a disease similar to the two cases presented here. A bone survey of the parents and the two living siblings revealed no abnormalities.Case I: This female infant, born on April 17, 1960, was the product of a full-term pregnancy. The birth weight was 1,125 g. The infant was grossly microcephalic with a head circumference of 25.5 cm and a chest circumference of 24.5 cm. Bulging eyes and spade-like hands were noted. Jaundice, present on the second day of life, gradually decreased in intensity, but was recorded to be still present before death at one month of age. There was no hepato-splenomegaly.Laboratory Data: The hemoglobin was 15.9 g per 100 cc on the third and 9.7 g per 100 cc on the twenty-ninth day of life. White blood cells were 8,100/mm3with a differential of 62 per cent segmented, 30 per cent lymphocytes, 6 per cent monocytes, and 2 per cent eosinophils; calcium was 5 mEq; urea nitrogen 14.5 mg per 100 cc, and bilirubin 9.5 mg per 100 cc on the third, 24.8 mg per 100 cc on the fifth, and 9.5 mg per 100 cc on the twenty-second day of life.Case II: This male infant was born on Feb. 27, 1965, about one month prematurely. The birth weight was 1,177 g, the body length 35 cm, the head circumference 24.5 cm, and the chest circumference 24 cm. Microcephaly, bulging eyes, flat bridge of the nose, highly arched palate, and spade-like hands and feet were noted. The infant breathed immediately after birth and cried shortly thereafter.
