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Autosomal dominant inheritance of the DeMyer Sequence.
J Craniofac Genet Dev Biol. 1988; 8(3):199-204.JC

Abstract

Holoprosencephaly (HPC) may be an isolated trait or may be associated with other craniofacial defects. As an isolated trait, HPC has been reported to be inherited as an autosomal recessive, while autosomal dominant inheritance has been reported for sequences or syndromes in which HPC occurs. This paper presents a family in which several people have variable combinations of craniofacial defects. The most severely affected relatives have HPC, while others have only mild facial dysmorphia and decreased bitemporal diameters. One relative has a single central incisor in the maxilla. The pattern of defects in this family is inherited as an autosomal dominant. Other families with the reported pattern of defects, including single central incisors as minimal manifestations, are cited. Because HPC is found only occasionally in the pattern of defects, the term DeMyer Sequence is proposed as a more appropriate designator than the more commonly used Holoprosencephaly Sequence.

Authors+Show Affiliations

Scott and White Hospital, Temple, Texas.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3209682

Citation

Jaramillo, C, et al. "Autosomal Dominant Inheritance of the DeMyer Sequence." Journal of Craniofacial Genetics and Developmental Biology, vol. 8, no. 3, 1988, pp. 199-204.
Jaramillo C, Brandt SK, Jorgenson RJ. Autosomal dominant inheritance of the DeMyer Sequence. J Craniofac Genet Dev Biol. 1988;8(3):199-204.
Jaramillo, C., Brandt, S. K., & Jorgenson, R. J. (1988). Autosomal dominant inheritance of the DeMyer Sequence. Journal of Craniofacial Genetics and Developmental Biology, 8(3), 199-204.
Jaramillo C, Brandt SK, Jorgenson RJ. Autosomal Dominant Inheritance of the DeMyer Sequence. J Craniofac Genet Dev Biol. 1988;8(3):199-204. PubMed PMID: 3209682.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant inheritance of the DeMyer Sequence. AU - Jaramillo,C, AU - Brandt,S K, AU - Jorgenson,R J, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 199 EP - 204 JF - Journal of craniofacial genetics and developmental biology JO - J Craniofac Genet Dev Biol VL - 8 IS - 3 N2 - Holoprosencephaly (HPC) may be an isolated trait or may be associated with other craniofacial defects. As an isolated trait, HPC has been reported to be inherited as an autosomal recessive, while autosomal dominant inheritance has been reported for sequences or syndromes in which HPC occurs. This paper presents a family in which several people have variable combinations of craniofacial defects. The most severely affected relatives have HPC, while others have only mild facial dysmorphia and decreased bitemporal diameters. One relative has a single central incisor in the maxilla. The pattern of defects in this family is inherited as an autosomal dominant. Other families with the reported pattern of defects, including single central incisors as minimal manifestations, are cited. Because HPC is found only occasionally in the pattern of defects, the term DeMyer Sequence is proposed as a more appropriate designator than the more commonly used Holoprosencephaly Sequence. SN - 0270-4145 UR - https://www.unboundmedicine.com/medline/citation/3209682/Autosomal_dominant_inheritance_of_the_DeMyer_Sequence_ DB - PRIME DP - Unbound Medicine ER -