Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome

We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a si...

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Vydáno v:American journal of medical genetics Ročník 80; číslo 4; s. 303 - 308
Hlavní autoři: Franceschini, Piergiorgio, Licata, Domenico, Guala, Andrea, Di Cara, Giuseppe, Signorile, Federico, Franceschini, Daniele, Genitori, Lorenzo, Restagno, Gabriella
Médium: Journal Article
Jazyk:angličtina
Vydáno: New York John Wiley & Sons, Inc 04.12.1998
Wiley-Liss
Témata:
Adult
Baller-Gerold syndrome
Biological and medical sciences
Craniosynostoses - pathology
Diseases of the osteoarticular system
elongated first metacarpal
Female
fifth-finger brachymesophalangy
Fingers - abnormalities
Humans
Infant, Newborn
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
metacarpophalangeal profile
Metacarpus - abnormalities
monozygotic twins
Radius - abnormalities
Syndrome
Twins, Monozygotic
Human
Hypoplasia
Radius
Nervous system diseases
Craniosynostosis
Diseases of the osteoarticular system
Metacarpophalangeal
Dysostosis
Exploration
Infant
Gene expression
Congenital disease
Case study
Metacarpal bone
Concomitant disease
Phenotype
Aplasia
Baller Gerold syndrome
Disease of the hand
Malformation
Skull disease
Upper limb
Diagnosis
Monozygotic twin
ISSN:0148-7299, 1096-8628
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Shrnutí:We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects. Am. J. Med. Genet. 80:303–308, 1998. © 1998 Wiley‐Liss, Inc.
Bibliografie:ark:/67375/WNG-0NQ3D8K4-1
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ArticleID:AJMG1
ObjectType-Case Study-2
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ObjectType-Review-5
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19981204)80:4<303::AID-AJMG1>3.0.CO;2-S