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A new acro-cranio-facial dysostosis syndrome in sisters.
Am J Med Genet. 1988 Jan; 29(1):95-106.AJ

Abstract

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.

Authors+Show Affiliations

Division of Medical Genetics, Montreal Children's Hospital, Québec, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3344780

Citation

Kaplan, P, et al. "A New Acro-cranio-facial Dysostosis Syndrome in Sisters." American Journal of Medical Genetics, vol. 29, no. 1, 1988, pp. 95-106.
Kaplan P, Plauchu H, Fitch N, et al. A new acro-cranio-facial dysostosis syndrome in sisters. Am J Med Genet. 1988;29(1):95-106.
Kaplan, P., Plauchu, H., Fitch, N., & Jéquier, S. (1988). A new acro-cranio-facial dysostosis syndrome in sisters. American Journal of Medical Genetics, 29(1), 95-106.
Kaplan P, et al. A New Acro-cranio-facial Dysostosis Syndrome in Sisters. Am J Med Genet. 1988;29(1):95-106. PubMed PMID: 3344780.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new acro-cranio-facial dysostosis syndrome in sisters. AU - Kaplan,P, AU - Plauchu,H, AU - Fitch,N, AU - Jéquier,S, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 95 EP - 106 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 29 IS - 1 N2 - Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/3344780/A_new_acro_cranio_facial_dysostosis_syndrome_in_sisters_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=29&issue=1&spage=95 DB - PRIME DP - Unbound Medicine ER -