Schneiderman Prelims Vol-I. qxd

EAR LESIONS
153
Schneiderman page 100-200.qxd 5/16/2006 6:49 PM Page 153

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sclerocornea), MLS (microphthalmia and linear skin defects),
and Gazali–Temple syndrome; lethal in males; low-set ears;
residual facial scarring in females, short stature, organ
malformations 
BJD 138:1046–1052, 1998
Robert’s syndrome – hypomelia-hypotrichosis-facial
hemangioma (pseudothalidomide) syndrome – hypoplastic ear
lobules, mid forehead and midfacial port wine stain, cleft lip
and/or palate, sparse silvery blonde hair, limb reduction defects,
and marked growth retardation 
Clin Genet 5:1–16, 1974
Robinow syndrome – overfolded helix 
Eur J Pediatr
151:586–589, 1992
Rosai–Dorfman disease 
Semin Diagn Pathol 7:19–73, 1990
Rubinstein–Taybi syndrome – mental deficiency, small head,
broad thumbs and great toes, beaked nose, malformed low-set
ears, capillary nevus of forehead, hypertrichosis of back and
eyebrows, keloids, cardiac defects 
Cutis 57:346–348, 1996; Am
J Dis Child 105:588–608, 1963
Sakati syndrome – patchy alopecia with atrophic skin above
ears, submental linear scars, acrocephalopolysyndactyly,
short limbs, congenital heart disease, abnormally shaped
low-set ears, ear tag, short neck with low hairline 
J Pediatr
79:104–109, 1971
Say syndrome – large ears, short stature, cleft palate,
microcephaly 
Am J Med Genet 45:358–360, 1993
Scalp–ear–nipple syndrome – autosomal dominant; aplasia
cutis congenita of the scalp, irregularly shaped pinna,
hypoplastic nipple, widely spaced teeth, partial syndactyly 
Am J
Med Genet 50:247–250, 1994
Seckel syndrome – malformed ears 
Eur J Pediatr 137:237–242,
1981
Short stature, mental retardation, facial dysmorphism, short
webbed neck, skin changes, congenital heart disease – xerosis,
dermatitis, low-set ears, umbilical hernia 
Clin Dysmorphol
5:321–327, 1996
Steatocystoma multiplex
Townes–Brocks syndrome – lop ears, preauricular tags
Dysmorphol Clin Genet 2:104–108, 1988
Treacher Collins syndrome (mandibulofacial dysostosis) –