Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Autor: Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague

Publikováno v: Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review

Autor: Laurence Faivre, Claire Guissart, Eliane Chouery, André Mégarbané, Christel Thauvin-Robinet, Bernard Aral, Hala Mégarbané, Charbel Nassif

Publikováno v: European Journal of Medical Genetics. 56:674-677

CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ebbf541e54bb291d56da93b25caa9c4
https://doi.org/10.1016/j.ejmg.2013.09.012

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in theEDARgene

Autor: Céline Cluzeau, Christine Bodemer, Asma Smahi, Myrna Chababi-Atallah, Sylvie Fraitag, André Mégarbané, Hala Mégarbané

Publikováno v: American Journal of Medical Genetics Part A. :2657-2662

We report on an 18-year-old woman, born to first-cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aafeab2af10aebdf99f3b82d1a0f3d3
https://doi.org/10.1002/ajmg.a.32509

Further delineation of the odonto-onycho-dermal dysplasia syndrome

Autor: Valérie Delague, Nelly Boehm, André Mégarbané, Hala Mégarbané, Julien Renoux, May Haddad

Publikováno v: American Journal of Medical Genetics Part A. :193-197

We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthoker

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d65d2f8d226368c20d208347c8f2dac5
https://doi.org/10.1002/ajmg.a.30188

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review

Autor: André Mégarbané, Hala Mégarbané, Gérard Lefranc, Cynthia Zablit, Roland Tomb, N. Waked

Publikováno v: American Journal of Medical Genetics Part A. :323-327

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are desc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27e64059137568cfb56fbb079f1379d8
https://doi.org/10.1002/ajmg.a.20352