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Hallermann‐Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage
Author(s) -
Hou JW
Publication year - 2003
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2003.tb02551.x
Subject(s) - medicine , microphthalmia , failure to thrive , hypoplasia , choanal atresia , short stature , pediatrics , etiology , surgery , pathology , genetics , atresia , gene , biology
Hallermann‐Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic‐genetic evaluations are indicated. A 2‐mo‐old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin‐like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. Conclusion : The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria‐like facies, congenital cataracts and growth failure.