Pili torti

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).

Unilateral cleft lip

A non-midline cleft of the upper lip on one side only.


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PMID (PMCID)
9098488
 MIXED_SAMPLE Child
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.
Sorge G, Pavone L, Polizzi A, Mauceri L, Leonardi RM, Tripi T, Opitz JM.
Am J Med Genet. 1997;69(4):388-94.
In contra-distinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digits 2-5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1).