Schneiderman Prelims Vol-I. qxd

LIP PITS
Angular sinuses
Commissural lip pits – autosomal dominant; usually bilateral
may be associated with pre-auricular sinuses or pits 
Oral
Surg Oral Med Oral Pathol 21:56–60, 1966; may communicate
with parotid duct 
Arch Otolaryngol Head Neck Surg
116:1445–1447, 1990
Congenital sinus of the lower lip (with lower lip pits) (congenital
fistulae of lower lip) – bilateral 
Textbook of Neonatal
Dermatology, p.478, 2001; Trans St John’s Hosp Dermatol Soc
61:82–86, 1975
Congenital lower lip pits 
Ped Derm 19:363–364, 2002; Ped
Derm 15:443–445, 1998; Cutis 61:127–128, 1998; JAAD
32:520–521, 1995; Am J Hum Genet 6:244–256, 1954; may
communicate with underlying salivary glands 
Rook
p.3126–3127, 1998, Sixth Edition
Congenital conductive or mixed deafness, preauricular sinus,
external ear anomaly, commissural lip pits – autosomal
dominant 
Ann Otol Rhinol Laryngol 100:928–932, 1991
Focal dermal hypoplasia, morning glory anomaly, and
polymicrogyria – swirling pattern of hypopigmentation,
papular hypopigmented and herniated skin lesions of face,
head, hands, and feet, basaloid follicular hamartomas, mild
mental retardation, macrocephaly, microphthalmia, unilateral
morning glory optic disc anomaly, palmar and lip pits, and
polysyndactyly 
Am J Med Genet 124A:202–208, 2004
Hirschsprung’s disease with cleft palate and paramedian pits of
the lower lip 
J Pediatr Surg 14:162–164, 1979
Kabuki make-up syndrome (Niikawa–Kuroki syndrome) – lower
lip pits and anorectal anomalies 
Am J Med Genet 86:282–284,
1999
Median cleft of the lower lip with lip pits and clefts of the lip and
palate 
Cleft Palate Craniofac J 36:86–87, 1999
Midline sinus of the upper lip 
Plast Reconstr Surg 65:674–675,
1980
Orofacial digital syndrome type 1 – lower lip pits, oral frenula,
and clefts, hypoplasia of the nasal cartilage, malformation of
the hands, hypertelorism, mental retardation 
Cutis 61:127–128,
1998
Popliteal pterygium syndrome – lower lip pits, oral clefts,
pterygium of the leg, genitourinary anomalies, congenital
heart disease, syndactyly 
Ped Derm 15:443–445, 1998
Trichorrhexis nodosa with lip pits – autosomal dominant
ectodermal dysplasia with central nervous system
malformations 
Am J Med Genet 71:226–228, 1997
Van der Woude syndrome – autosomal dominant; lower lip pits,
cleft lip, palate, and uvula, hypodontia; mutation of interferon
regulatory factor 6 (IRF6) 
NEJM 351:769–780, 2004; Ped Derm
15:443–445, 1998