Sonography of the Zellweger syndrome.
Sonography of the Zellweger syndrome.
复制标题
齐薇格综合征的超声检查。
DOI：
10.7863/jum.1988.7.3.169
复制
发表时间：
1988
影响因子：
2.3
通讯作者：
E. Graviss
中科院分区：
文献类型：
--
作者：
A. Luisiri;C. Sotelo‐Avila;M. Silberstein;E. Graviss
病例1：一名6天大的白人女婴被转移到格伦农主教儿童医院评估畸形。她的母亲是G2， P2， AbO血型，自然阴道分娩。父母没有血缘关系，另一个兄弟姐妹正常健康。她的出生体重为2050克，低于第5百分位。杜博维茨估计她的胎龄是36周，但日期是39周。头围325 em（第50百分位），前囟门宽且饱满（4 X 4 em），缝合线分离。她有狭窄的睑裂和远视。她的耳朵低垂，皮肤黄疸，粗糙，布满皱纹。没有器官肿大。小阴唇大，阴蒂突出，肛门闭锁伴会阴-阴道-直肠前瘘。她的四肢表现为左侧猿类褶皱，双侧斜足和双侧畸形足。神经学检查显示张力减退，Moro和gTasp反射缺失，吸吮反射差。骨骼检查显示双髌骨内及周围不规则钙化，双大转子、左侧三辐状软骨和左侧小范围钙化
Case 1 A 6-day-old white infant girl was transferred to Cardinal Glennon Children's Hospital for evaluation of dysmorphism. She was born to a G2, P2, AbO, mother by spontaneous vaginal delivery. The parents were not consanguineous and another sibling was normal and healthy. Her birth weight of 2050 g placed her below the 5th percentile. Her estimated gestational age was 36 weeks by Dubowitz, but 39 weeks by date. Head circumference was 325 em (50th percentile) with a wide and full anterior fontanelle (4 X 4 em) and separated sutures. She had narrow palpebral fissures and demonstrated hypertelorism. Her ears were low set and her skin was icteric, coarse, and wrinkled. There was no organomegaly. She had large labia minora, a prominent clitoris, and an imperforate anus with an anterior perineal-vagino-rectal fistula. Her extremities dem~ onstrated a left simian crease, bilateral clinodactyly and bilatA era] club feet. Neurological examination revealed hypotonia, absent Moro and gTasp reflexes, and a poor sucking reflex. A skeletal survey demonstrated irregular calcifications in and around both patellae, a small focus of calcification in both greater trochanters, in the left triradiate cartilage and in the left