Craniosynostosis in the Amish

Harold E. Cross; John M. Opitz

doi:10.1016/s0022-3476(69)80343-4

Craniosynostosis in the Amish

Harold E. Cross, John M. Opitz

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

Eleven related persons with craniosynostosis are reported. Six of these cases occurred in four Ohio Amish sibships and were clinically indistinguishable from "nonspecific craniosynostosis," which is not usually associated with other malformations. Despite some clinical variability, the genetic data seem to support the hypothesis that the condition in all six cases is due to homozygosity of the same recessive gene. Five cases occurred in a Wisconsin branch of the same Amish kindred and appear to represent typical Crouzon's disease. Formal genetic analysis is unable to discriminate between direct transmission of a dominant gene and pseudodominant recessive inheritance as cause of the condition in this family. Dominant inheritance appears more likely, but this kindred also suggests the possible existence of a recessively inherited form of Crouzon's disease.

Original language	English (US)
Pages (from-to)	1037-1044
Number of pages	8
Journal	The Journal of Pediatrics
Volume	75
Issue number	6 PART 1
DOIs	https://doi.org/10.1016/s0022-3476(69)80343-4
State	Published - Dec 1969
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/s0022-3476(69)80343-4

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@article{bfb8c86bb04e4c8bb81fd3516b2d5b5a,

title = "Craniosynostosis in the Amish",

abstract = "Eleven related persons with craniosynostosis are reported. Six of these cases occurred in four Ohio Amish sibships and were clinically indistinguishable from {"}nonspecific craniosynostosis,{"} which is not usually associated with other malformations. Despite some clinical variability, the genetic data seem to support the hypothesis that the condition in all six cases is due to homozygosity of the same recessive gene. Five cases occurred in a Wisconsin branch of the same Amish kindred and appear to represent typical Crouzon's disease. Formal genetic analysis is unable to discriminate between direct transmission of a dominant gene and pseudodominant recessive inheritance as cause of the condition in this family. Dominant inheritance appears more likely, but this kindred also suggests the possible existence of a recessively inherited form of Crouzon's disease.",

author = "Cross, {Harold E.} and Opitz, {John M.}",

note = "Funding Information: ~Supt~orted in t~art by Training Grant No. GM 00795 and Research Grant No. GM 10189 \[rom the National Institutes o\[ Health. ~*Research aided by a Grant trom the National Foundation-March o\[ Dimes. and by National Institutes ol Health Grants Nos. GM 08217 and GM 15422. Paper No. 1234 \[rora the Genetics Laboratory.",

year = "1969",

month = dec,

doi = "10.1016/s0022-3476(69)80343-4",

language = "English (US)",

volume = "75",

pages = "1037--1044",

journal = "The Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

number = "6 PART 1",

}

TY - JOUR

T1 - Craniosynostosis in the Amish

AU - Cross, Harold E.

AU - Opitz, John M.

N1 - Funding Information: ~Supt~orted in t~art by Training Grant No. GM 00795 and Research Grant No. GM 10189 \[rom the National Institutes o\[ Health. ~*Research aided by a Grant trom the National Foundation-March o\[ Dimes. and by National Institutes ol Health Grants Nos. GM 08217 and GM 15422. Paper No. 1234 \[rora the Genetics Laboratory.

PY - 1969/12

Y1 - 1969/12

N2 - Eleven related persons with craniosynostosis are reported. Six of these cases occurred in four Ohio Amish sibships and were clinically indistinguishable from "nonspecific craniosynostosis," which is not usually associated with other malformations. Despite some clinical variability, the genetic data seem to support the hypothesis that the condition in all six cases is due to homozygosity of the same recessive gene. Five cases occurred in a Wisconsin branch of the same Amish kindred and appear to represent typical Crouzon's disease. Formal genetic analysis is unable to discriminate between direct transmission of a dominant gene and pseudodominant recessive inheritance as cause of the condition in this family. Dominant inheritance appears more likely, but this kindred also suggests the possible existence of a recessively inherited form of Crouzon's disease.

AB - Eleven related persons with craniosynostosis are reported. Six of these cases occurred in four Ohio Amish sibships and were clinically indistinguishable from "nonspecific craniosynostosis," which is not usually associated with other malformations. Despite some clinical variability, the genetic data seem to support the hypothesis that the condition in all six cases is due to homozygosity of the same recessive gene. Five cases occurred in a Wisconsin branch of the same Amish kindred and appear to represent typical Crouzon's disease. Formal genetic analysis is unable to discriminate between direct transmission of a dominant gene and pseudodominant recessive inheritance as cause of the condition in this family. Dominant inheritance appears more likely, but this kindred also suggests the possible existence of a recessively inherited form of Crouzon's disease.

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DO - 10.1016/s0022-3476(69)80343-4

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AN - SCOPUS:9844230595

SN - 0022-3476

VL - 75

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EP - 1044

JO - The Journal of Pediatrics

JF - The Journal of Pediatrics

IS - 6 PART 1

ER -

Craniosynostosis in the Amish

Abstract

ASJC Scopus subject areas

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