Fam. Baumeister et al., AMBRAS SYNDROME - DELINEATION OF A UNIQUE HYPERTRICHOSIS UNIVERSALIS-CONGENITA AND ASSOCIATION WITH A BALANCED PERICENTRIC-INVERSION (8) (P11.2, Q22), Clinical genetics, 44(3), 1993, pp. 121-128
Congenital hypertrichosis universalis is a rare autosomal dominant dis
ease. We report the further development of a Greek girl, now aged 3 ye
ars, the first case associated with a balanced structural chromosomal
aberration. She was described as a neonate by Sigalas et al. (1990). H
er persistent generalized hypertrichosis is most excessive on the face
, ears and shoulders. Her fine silky hair is of the vellus, not the la
nugo type. The syndrome features are characterized, referring to nine
further published case reports. It is distinguished from other types o
f congenital hypertrichoses, which have been described in the literatu
re under different synonyms. To avoid confusion in the terminology, we
propose to name this type of hypertrichosis Ambras syndrome in refere
nce to the first documented family with congenital hypertrichosis univ
ersalis in the 16th century.