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

Franceschini, P; Licata, D; Guala, Andrea; Cara, Giuseppe Di; Signorile, F.; Franceschini, D.; Genitori, Lorenzo; Restagno, Gabriella

doi:10.1002/(sici)1096-8628(19981204)80:4<303::aid-ajmg1>3.0.co;2-s

Cited by 7 publications

(1 citation statement)

References 21 publications

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“…Given the incidence of identical twins at 4 per 1,000 and the incidence of Crouzon syndrome at 16 per million, the probability of identical twins with Crouzon syndrome can be calculated as 0.0000064%. There have been 14 case reports of twinning in syndromic craniosynostosis, with only two receiving follow-up 123456789101112131415. Of these two, one reported the outcomes of patients with Crouzon syndrome at 5 years of age and the other reported the outcomes of Pfeiffer syndrome at 14 years of age 414.…”

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confidence: 99%

Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

Trost

Khechoyan

Hollier

et al. 2017

Craniomaxillofacial Trauma & Reconstruction

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A case report of monozygotic (MZ) twins with Crouzon syndrome was previously published to highlight variables in clinical presentation. The postnatal and epigenetic causes for this variation are not well understood. An 8-year follow-up discusses their pertinent clinic course with consideration of genetic and nongenetic variables. The phenotypic and symptomatic obstacles encountered since their initial assessment are reviewed, and the use of three-dimensional Medical Modeling (Golden, CO) as a preoperative planning strategy is addressed. Analyzing the longitudinal clinical course of MZ twins with syndromic craniosynostosis will help better predict and provide optimal treatment.

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mentioning

confidence: 99%

Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

Trost

Khechoyan

Hollier

et al. 2017

Craniomaxillofacial Trauma & Reconstruction

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AnotherTWIST on Baller-Gerold syndrome

et al. 2001

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Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, Central Nervous System (CNS), and urogenital anomalies. Baller-Gerold syndrome is thought to have autosomal recessive inheritance. However, Gripp et al. [1999: Am. J. Med. Genet. 82:170-176] recently provided the first evidence for autosomal dominant inheritance with variable expressivity and severity. A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous parents, with synostosis of the coronal, metopic, and sagittal sutures, and bilateral radial ray hypoplasia. The patient's small, round ears with prominent crus helices, and cervical anomalies are common features of SCS. The father had very mild features of SCS. We identify direct paternal transmission of a novel missense TWIST mutation in the highly conserved Helix II domain of this bHLH-family gene. This report lends further support to the recent findings by Gripp et al. [1999]. Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller-Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS.

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Gershoni–Baruch syndrome: Report of a new family confirming autosomal recessive inheritance

Franceschini

Guala

Licata

et al. 2003

American J of Med Genetics Pt A

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Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.

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

Cited by 7 publications

References 21 publications

Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management

AnotherTWIST on Baller-Gerold syndrome

Gershoni–Baruch syndrome: Report of a new family confirming autosomal recessive inheritance

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