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Cited by 58Craniofacial Disorders and Treatmentsdental development and anomaliesCleft Lip and Palate Research

Craniofrontonasal dysplasia: Phenotypic expression in females and males and genetic considerations

Grutzner, Eric, Gorlin, Robert J.·1988·Oral Surgery, Oral Medicine, Oral Pathology
DOI 10.1016/0030-4220(88)90358-1
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Abstract

The phenotype and pattern of inheritance of craniofrontonasal dysplasia were analyzed in 66 affected persons from 18 families, including one four-generation kindred personally studied. Females were more severely affected than males. Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails. Males had increased bony interorbital distances and distances between the inner canthi of the eyes, broad nasal root, broad halluces, and vertical grooving of nails but no craniosynostosis. Affected men transmitted the condition to all of their daughters but to no sons, while affected women transmitted the disorder to about half their daughters and half their sons. This pattern is compatible with X-linked dominant inheritance, but the far milder manifestation of the syndrome in males cannot be explained by simple mendelian genetics.

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  • Females with craniofrontonasal syndrome have severe hypertelorism, unicoronal or bicoronal synostosis, bifid nasal tip, characteristic longitudinal nail splits, and at lower frequency sloping shoulders, asymmetric nipples, bifid digits, and agenesis of the corpus callosum.

    “Females have severe hypertelorism, unicoronal or bicoronal synostosis, bifid nasal tip, characteristic longitudinal nail splits (Figure 1m and o) and, at lower frequency, sloping shoulders, asymmetric nipples, bifid digits and agenesis of the corpus callosum.30”

    From Craniosynostosis (2011) · cites this paper as [30]

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Authors
Grutzner, E., & Gorlin, R. J.
Affiliations
University of Minnesota (US)
Venue
Oral Surgery, Oral Medicine, Oral Pathology
Publisher
Elsevier BV
Published
1988-04
Volume
65
Issue
4
Pages
436-444
ISSN
0030-4220 (ISSN-L)
DOI
10.1016/0030-4220(88)90358-1
OpenAlex
W2014389505
Cited by
58
References
26
Citations by year
2026: 2 · 2025: 1 · 2024: 2 · 2022: 1 · 2021: 2 · 2020: 5 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 1
FWCI
0.43
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Oral Surgery Oral Medicine Oral Pathology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
Keywords
X-linked dominant inheritance, sex differences in phenotype, hypertelorism, craniosynostosis, syndactyly, family transmission, genotype-phenotype correlation
MeSH terms
Abnormalities, Multiple, Craniosynostoses, Facial Bones, Female, Humans, Male, Pedigree, Phenotype, Skull, Syndrome

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