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J. Neto, L. Lu, R. Eavey, M. Flores, R. Caldera, S. Sangwatanaroj, J. Schott, B. McDonough, J. Santos, C. Seidman, J. Seidman (1998)
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.American journal of human genetics, 62 5
O. Reish, R. Gorlin, M. Hordinsky, E. Rest, B. Burke, S. Berry (1997)
Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?American journal of medical genetics, 68 4
Kathreen Johnston, Kathreen Johnston, Mahin Golabi, Bryan Hall, Melanie Ito, Art Grix, James Reynolds (1987)
Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case.American journal of medical genetics, 26 4
A. Chiba, T. Miura (1979)
A family with hypotrichosis associated with congenital hypoplasia of the thumbJapanese Journal of Human Genetics, 24
N. Freire‐Maia, M. Pinheiro (1984)
Ectodermal dysplasias: A clinical and genetic study
B. Crandall, L. Samec, R. Sparkes, S. Wright (1973)
A familial syndrome of deafness, alopecia, and hypogonadism.The Journal of pediatrics, 82 3
R. Winter, K. Macdermot, F. Hill, G. Neri, J. Reynolds (1988)
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.American journal of medical genetics, 29 1
Virginia Johnson, J. McMillin, Thomas Aceto, George Bruins, M. John (1983)
A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.American journal of medical genetics, 15 3
D. Printz, S. Ayres (1945)
Congenital ectodermal defect.Archives of dermatology and syphilology, 52
Jérôme Lamartine, D. Laoudj, C. Blanchet‐Bardon, Zoha Kibar, P. Soularue, V. Ridoux, L. Dubertret, Guy Rouleau, Gilles Waksman (2000)
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French familyBritish Journal of Dermatology, 142
Ian Young, Andrew Wilkie (1994)
Syndrome of the monthJournal of Medical Genetics, 31
A. Verloes, M. Soyeur-Broux, J. Arrese-Estrada, C. Piérard‐franchimont, P. Dodinval, G. Piérard (1990)
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?Dermatologica, 181 2
G. Robinson, M. Johnston (1967)
Pili torti and sensory neural hearing loss.The Journal of pediatrics, 70 4
R. Hennekam, Frank Holtus (1993)
Johnson-McMillin syndrome: report of another family.American journal of medical genetics, 47 5
M. Baraitser, C Carter, E. Brett (1983)
A new alopecia/mental retardation syndromeJournal of Medical Genetics, 20
(1977)
A familial case of congenital deformity of the thumb and congenital alopecia: A case report
Dian Donnai, Heather Lj, P. Sinclair, Y. Thakker, P. Scambler, Michael Dixon (1992)
Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.Clinical dysmorphology, 1 2
Johnston Mc (1975)
The neural crest in abnormalities of the face and brain.Birth defects original article series, 11
(1988)
A new ectodermal dysplasia syndrome with syndactyly, cleft lip/palate and short stature
U. Radhakrishna, J. Blouin, H. Mehenni, Timir Mehta, F. Sheth, J. Sheth, Jitendra Solanki, S. Antonarakis (1997)
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.American journal of medical genetics, 71 1
L. Dods (1935)
CONGENITAL ECTODERMAL DYSPLASIAMedical Journal of Australia, 1
In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925–927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714–716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male‐to‐male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early‐onset alopecia in the maternal grandfather's relatives. © 2003 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jun 30, 2005
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