Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis

被引：9

作者：

Gerard-Blanluet, Marion ^{[1
]}

Lambert, Veronique ^{[2
]}

Khung-Savatovsky, Suonavy ^{[3
]}

Perrin-Sabourin, Laurence ^{[4
]}

Passemard, Sandrine ^{[4
]}

Baumann, Clarisse ^{[4
]}

Delezoide, Anne-Lise ^{[3
]}

Verloes, Alain ^{[4
]}

机构：

[1] APHP Robert Debre Hosp, Dept Med Genet, Paris, France

[2] W Guinea Hosp, Fetal Imaging Unit, St Laurent Du Maroni, French Guiana

[3] APHP Robert Debre Hosp, Dept Dev Biol, Paris, France

[4] APHP Robert Debre Hosp, Dept Clin Genet, Paris, France

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2011年 / 30卷 / 01期

关键词：

SEPTUM MALFORMATION SEQUENCE; PULMONARY AGENESIS; PRENATAL-DIAGNOSIS; VACTERL SEQUENCE; EXSTROPHY; COMPLEX; PENIS; PART;

D O I：

10.3109/15513815.2010.494698

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

We report the association of aphallia, with imperforate anus, bilateral renal dysplasia and complete right lung agenesis in a fetus born of non-consanguineous parents. No maternal diabetes was present. The multiple mesodermal anomalies present in this male fetus, with a severe form of Uro-Rectal-Septum Malformation Sequence associated with unilateral lung agenesis, and rib segmentation anomaly is consistent with an extended defect of blastogenesis, with apparent common timing of the malformations around the 5th to 7th weeks of gestation.</.

引用

页码：22 / 26

页数：5

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