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A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.
Hum Genet. 1979; 50(1):65-70.HG

Abstract

Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.

Authors

Fryns JP
No affiliation info available
Moerman F
No affiliation info available
Goddeeris P
No affiliation info available
Bossuyt C
No affiliation info available
Van den Berghe H
No affiliation info available

MeSH

Abnormalities, MultipleAdultCorneal OpacityDiaphragmFaceFemaleFingersGenes, LethalGenes, RecessiveHumansInfant, NewbornPolyhydramniosPregnancySyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

381161

Citation

Fryns, J P., et al. "A New Lethal Syndrome With Cloudy Corneae, Diaphragmatic Defects and Distal Limb Deformities." Human Genetics, vol. 50, no. 1, 1979, pp. 65-70.
Fryns JP, Moerman F, Goddeeris P, et al. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet. 1979;50(1):65-70.
Fryns, J. P., Moerman, F., Goddeeris, P., Bossuyt, C., & Van den Berghe, H. (1979). A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Human Genetics, 50(1), 65-70.
Fryns JP, et al. A New Lethal Syndrome With Cloudy Corneae, Diaphragmatic Defects and Distal Limb Deformities. Hum Genet. 1979;50(1):65-70. PubMed PMID: 381161.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. AU - Fryns,J P, AU - Moerman,F, AU - Goddeeris,P, AU - Bossuyt,C, AU - Van den Berghe,H, PY - 1979/1/1/pubmed PY - 1979/1/1/medline PY - 1979/1/1/entrez SP - 65 EP - 70 JF - Human genetics JO - Hum Genet VL - 50 IS - 1 N2 - Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/381161/A_new_lethal_syndrome_with_cloudy_corneae_diaphragmatic_defects_and_distal_limb_deformities_ DB - PRIME DP - Unbound Medicine ER -