TY - JOUR
T1 - Uncombable hair (pili trianguli et canaliculi)
T2 - Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
AU - Hebert, A. A.
AU - Charrow, J.
AU - Esterly, N. B.
AU - Fretzin, D. F.
N1 - Funding Information:
Foundation item: The National Natural Science Foundation of China (No.49774209) Biography of the first author: LI Zhi-wei, doctoral student, born in Aug. 1974, majoring in surveying data processing, erture radar interferometry. Received date: May 23, 2000
PY - 1987
Y1 - 1987
N2 - Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is 'unmanageable' and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.
AB - Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is 'unmanageable' and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.
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U2 - 10.1002/ajmg.1320280126
DO - 10.1002/ajmg.1320280126
M3 - Review article
C2 - 3314509
AN - SCOPUS:0023618087
SN - 0148-7299
VL - 28
SP - 185
EP - 193
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -