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Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
Birth Defects Orig Artic Ser. 1975; 11(5):91-8.BD

Abstract

Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance.

Links

gene/protein/disease-specific

Authors

Cantú JM
No affiliation info available
Hernández A
No affiliation info available
Ramírez J
No affiliation info available
Bernal M
No affiliation info available
Rubio G
No affiliation info available
Urrusti J
No affiliation info available
Franco-Vázquez S
No affiliation info available

MeSH

Abnormalities, MultipleDiagnosis, DifferentialGenes, RecessiveHeart Defects, CongenitalHumansInfantInfant, NewbornLimb Deformities, CongenitalMalePedigreePierre Robin SyndromeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1218241

Citation

Cantú, J M., et al. "Lethal Faciocardiomelic Dysplasia- a New Autosomal Recessive Disorder." Birth Defects Original Article Series, vol. 11, no. 5, 1975, pp. 91-8.
Cantú JM, Hernández A, Ramírez J, et al. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. Birth Defects Orig Artic Ser. 1975;11(5):91-8.
Cantú, J. M., Hernández, A., Ramírez, J., Bernal, M., Rubio, G., Urrusti, J., & Franco-Vázquez, S. (1975). Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. Birth Defects Original Article Series, 11(5), 91-8.
Cantú JM, et al. Lethal Faciocardiomelic Dysplasia- a New Autosomal Recessive Disorder. Birth Defects Orig Artic Ser. 1975;11(5):91-8. PubMed PMID: 1218241.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. AU - Cantú,J M, AU - Hernández,A, AU - Ramírez,J, AU - Bernal,M, AU - Rubio,G, AU - Urrusti,J, AU - Franco-Vázquez,S, PY - 1975/1/1/pubmed PY - 1975/1/1/medline PY - 1975/1/1/entrez SP - 91 EP - 8 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 11 IS - 5 N2 - Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/1218241/Lethal_faciocardiomelic_dysplasia__a_new_autosomal_recessive_disorder_ L2 - http://www.diseaseinfosearch.org/result/2701 DB - PRIME DP - Unbound Medicine ER -