A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism

Johnson, Virginia P.; McMillin, J. Michael; Aceto, Thomas; Bruins, George; John, M. Arthur

doi:10.1002/ajmg.1320150316

Cited by 43 publications

(48 citation statements)

References 6 publications

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“…The case described here shares many important features with the family described by Johnson et al [1983]. The patient's most significant findings of microtia and ectodermal dysplasia including hypotrichosis are similar to those described in their family, and our patient's physical appearance is strikingly similar to that seen in their case 111-10.…”

Section: Discussionsupporting

confidence: 79%

Alopecia‐anosmia‐deafness‐hypogonadism syndrome revisited: Report of a new case

et al. 1987

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Section: Discussionsupporting

confidence: 79%

Alopecia‐anosmia‐deafness‐hypogonadism syndrome revisited: Report of a new case

et al. 1987

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“…However, these features were absent in our patients. Johnson et al [1983] described hypogonadism and alopecia in association with anosmia, conductive deafness, congenital heart defect, cleft palate, and mental retardation, and suggested a new autosomal dominant neuroectodermal syndrome (OMIM-147770) [Johnson et al, 1983]. The autosomal dominant trait and some clinical findings such as anosmia, congenital heart defect, and cleft palate rule out the patients reported here.…”

Section: Discussioncontrasting

confidence: 60%

“…The association of hypogonadism and alopecia is rare and has only been reported occasionally [Crandall et al, 1973;Johnson et al, 1983;Johnston et al, 1987;Devriendt et al, 1996a,b]. In 1985, Al-Awadi et al [1985] reported three sibs with partial alopecia, hypogonadism and defective Mullerian development in the two sisters.…”

Section: Introductionmentioning

confidence: 94%

Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review

Tatar

Ocak

Tatar

et al. 2009

American J of Med Genetics Pt A

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Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them. They were the product of a Turkish consanguineous marriage. The clinical course for our patients is similar to two families reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622] and Megarbane et al. [Megarbane et al. (2003) Am J Med Genet Part A 119A:214-217]. This report supports the literature by proposing an autosomal recessive syndrome which was firstly reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622]. This condition may be due to a founder mutation.

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“…It induces embryologic anomalies of the ectoderm and neuroectoderm of the first and second brachial arches, Rathke's pouch, and the diencephalon. 36,37 Overlaps between Johnson-McMillin and CHARGE syndrome exist because CHARGE syndrome also induces anomalies of neuroectoderm development and neural crest migration. Overlaps between CHARGE and Kallmann syndromes are interesting for several reasons.…”

Section: Discussionmentioning

confidence: 99%

Olfactory Evaluation in Children: Application to the CHARGE Syndrome

Chalouhi¹,

Faulcon

Bihan-Benjamin

et al. 2005

Pediatrics

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ABSTRACT. Objective. To find an efficient tool for testing olfactory function in children and use it to investigate a group of children with CHARGE (coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear malformations and hearing loss) syndrome.Methods. We adapted for children an olfaction test that had just been validated in an adult French population and investigated a control group of 25 healthy children aged 6 to 13 years. We then tested the olfactory capacity of a group of 14 children with CHARGE syndrome, aged 6 to 18 years. A questionnaire was completed with the parents about their children's feeding difficulties and their ability to recognize odors in everyday life. We recorded and scored the histories of feeding behavior anomalies, the visual and auditory status, and current intellectual levels. MRI of the olfactory tracts and bulbs was analyzed for 9 of 14 children.Results. We showed that healthy children have similar olfactory function to that of the adult control group, which was representative of the general population, without any difference for either gender or age. We also showed that all children with CHARGE syndrome had olfactory deficiency. Half of them were anosmic, and the others had olfactory residual function (hyposmic). We found no association between olfactory deficiency and feeding behavior, visual or auditory impairment, or intellectual level. Parental subjective evaluations were accurate for only half of the group. All of the MRIs showed anomalies of the olfactory tracts and bulbs varying from moderate hypoplasia to complete aplasia, without any relation between the radiologic and the functional results.Conclusions. Olfaction can be assessed in children, even the young and disabled. Our results support the proposition that rhinencephalon anomalies should be included as a major criterion for the diagnosis of CHARGE syndrome. ABBREVIATIONS. CHARGE, coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear malformations and hearing loss; PEA, phenylethylalcohol. O lfaction has always been and remains the most neglected sense in studies of child development and behavior, the main reasons being the poor knowledge concerning the role of olfaction in human development and behavior and the lack of available tools for investigating olfaction, in particular in children. Development of the olfactory system begins very early in the human embryo; olfactory bulbs have their definitive structure at day 56. Then, cells of the olfactory placode differentiate to gonadotropic cells and migrate to the hypothalamic region along the terminal nerve (cranial nerve 0), the olfactory nerve (cranial nerve 1), and the vomeronasal nerve. One part of the olfactory system projects to the anterior part of the hypothalamus for odor perception and discrimination; the other projects to the limbic system and the hippocampus for the behavioral impact of olfaction and olfactory emotional memory. 1 The Jacobson vome...

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A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism

Cited by 43 publications

References 6 publications

Alopecia‐anosmia‐deafness‐hypogonadism syndrome revisited: Report of a new case

Alopecia‐anosmia‐deafness‐hypogonadism syndrome revisited: Report of a new case

Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review

Olfactory Evaluation in Children: Application to the CHARGE Syndrome

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