Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay

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Abstract

Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).
Lingua originaleEnglish
pagine (da-a)86-88
Numero di pagine3
RivistaDefault journal
Volume31
Stato di pubblicazionePublished - 2005

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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title = "Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay",
abstract = "Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).",
author = "Maria Piccione and Giovanni Corsello and Ettore Piro and Antonina Benenati",
year = "2005",
language = "English",
volume = "31",
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T1 - Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay

AU - Piccione, Maria

AU - Corsello, Giovanni

AU - Piro, Ettore

AU - Benenati, Antonina

PY - 2005

Y1 - 2005

N2 - Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).

AB - Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).

UR - http://hdl.handle.net/10447/13939

M3 - Article

VL - 31

SP - 86

EP - 88

JO - Default journal

JF - Default journal

ER -