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A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
Am J Med Genet. 1985 Apr; 20(4):631-8.AJ

Abstract

We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2986457

Citation

Richieri-Costa, A, et al. "A Previously Undescribed Autosomal Recessive Multiple Congenital Anomalies/mental Retardation (MCA/MR) Syndrome With Fronto-nasal Dysostosis, Cleft Lip/palate, Limb Hypoplasia, and Postaxial Poly-syndactyly: Acro-fronto-facio-nasal Dysostosis Syndrome." American Journal of Medical Genetics, vol. 20, no. 4, 1985, pp. 631-8.
Richieri-Costa A, Colletto GM, Gollop TR, et al. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. Am J Med Genet. 1985;20(4):631-8.
Richieri-Costa, A., Colletto, G. M., Gollop, T. R., & Masiero, D. (1985). A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics, 20(4), 631-8.
Richieri-Costa A, et al. A Previously Undescribed Autosomal Recessive Multiple Congenital Anomalies/mental Retardation (MCA/MR) Syndrome With Fronto-nasal Dysostosis, Cleft Lip/palate, Limb Hypoplasia, and Postaxial Poly-syndactyly: Acro-fronto-facio-nasal Dysostosis Syndrome. Am J Med Genet. 1985;20(4):631-8. PubMed PMID: 2986457.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. AU - Richieri-Costa,A, AU - Colletto,G M, AU - Gollop,T R, AU - Masiero,D, PY - 1985/4/1/pubmed PY - 1985/4/1/medline PY - 1985/4/1/entrez SP - 631 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 20 IS - 4 N2 - We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2986457/A_previously_undescribed_autosomal_recessive_multiple_congenital_anomalies/mental_retardation__MCA/MR__syndrome_with_fronto_nasal_dysostosis_cleft_lip/palate_limb_hypoplasia_and_postaxial_poly_syndactyly:_acro_fronto_facio_nasal_dysostosis_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=20&issue=4&spage=631 DB - PRIME DP - Unbound Medicine ER -