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[Prenatal diagnosis of pulmonary hypoplasia camptodactyly syndrome. Hypothesis concerning the origin of hydramnios].
J Genet Hum. 1985 Sep; 33(3-4):347-55.JG

Abstract

Camptodactyly and pulmonary hypoplasia syndrome was described for the first time in 1974. Today 15 cases have been found. None were subject to a prenatal diagnosis as any ultrasonography. The case we observe is a 27 years old woman, third gestation, showing a polyhydramnios at 25 weeks of gestation. The ultrasonographic examination showed deformation with a rounded abdomen, a narrow thoracic frame slightly concave, no gastric picture and hands in constant flexion. After elimination of the V.A.T.E.R.' syndrome the camptodactyly's syndrome with pulmonary hypoplasia was proposed. Because of the lethal character of this syndrome, the abortion was realised. The photos of the fetus were the same as the ultrasonographic pictures during the prenatal diagnosis. The absence of intrinsic (paralysis) or extrinsic (compression) movements of the fetus is very important in the genesis of "deformations". The severity of the deformities depends on the importance of akinesia.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

3903053

Citation

Lopes, P, et al. "[Prenatal Diagnosis of Pulmonary Hypoplasia Camptodactyly Syndrome. Hypothesis Concerning the Origin of Hydramnios]." Journal De Genetique Humaine, vol. 33, no. 3-4, 1985, pp. 347-55.
Lopes P, Talmant C, Cohen JY, et al. [Prenatal diagnosis of pulmonary hypoplasia camptodactyly syndrome. Hypothesis concerning the origin of hydramnios]. J Genet Hum. 1985;33(3-4):347-55.
Lopes, P., Talmant, C., Cohen, J. Y., Mouzard, A., Nomballais, M. F., Boiffard, J. P., & Lerat, M. F. (1985). [Prenatal diagnosis of pulmonary hypoplasia camptodactyly syndrome. Hypothesis concerning the origin of hydramnios]. Journal De Genetique Humaine, 33(3-4), 347-55.
Lopes P, et al. [Prenatal Diagnosis of Pulmonary Hypoplasia Camptodactyly Syndrome. Hypothesis Concerning the Origin of Hydramnios]. J Genet Hum. 1985;33(3-4):347-55. PubMed PMID: 3903053.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Prenatal diagnosis of pulmonary hypoplasia camptodactyly syndrome. Hypothesis concerning the origin of hydramnios]. AU - Lopes,P, AU - Talmant,C, AU - Cohen,J Y, AU - Mouzard,A, AU - Nomballais,M F, AU - Boiffard,J P, AU - Lerat,M F, PY - 1985/9/1/pubmed PY - 1985/9/1/medline PY - 1985/9/1/entrez SP - 347 EP - 55 JF - Journal de genetique humaine JO - J Genet Hum VL - 33 IS - 3-4 N2 - Camptodactyly and pulmonary hypoplasia syndrome was described for the first time in 1974. Today 15 cases have been found. None were subject to a prenatal diagnosis as any ultrasonography. The case we observe is a 27 years old woman, third gestation, showing a polyhydramnios at 25 weeks of gestation. The ultrasonographic examination showed deformation with a rounded abdomen, a narrow thoracic frame slightly concave, no gastric picture and hands in constant flexion. After elimination of the V.A.T.E.R.' syndrome the camptodactyly's syndrome with pulmonary hypoplasia was proposed. Because of the lethal character of this syndrome, the abortion was realised. The photos of the fetus were the same as the ultrasonographic pictures during the prenatal diagnosis. The absence of intrinsic (paralysis) or extrinsic (compression) movements of the fetus is very important in the genesis of "deformations". The severity of the deformities depends on the importance of akinesia. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/3903053/[Prenatal_diagnosis_of_pulmonary_hypoplasia_camptodactyly_syndrome__Hypothesis_concerning_the_origin_of_hydramnios]_ L2 - https://medlineplus.gov/prenataltesting.html DB - PRIME DP - Unbound Medicine ER -