Schneiderman Prelims Vol-I. qxd

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A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 600-722.qxd 5/16/2006 6:51 PM Page 620

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Tay syndrome – autosomal recessive, growth retardation,
triangular face, cirrhosis, trident hands, premature canities,
vitiligo 
Bolognia p.859, 2003
Thanatophoric dysplasia – autosomal dominant; micromelic
dwarfism; defect in FGFR3 
BJD 147:1096–1011, 2002
3-M syndrome 
Birth Defects 11:39–47, 1975
Tonoki syndrome – short stature, brachydactyly, nail dysplasia,
mental retardation 
Am J Med Genet 80:403–405, 1998
Toriello syndrome – autosomal recessive; proportionate short
stature, prenatal growth deficiency, delayed skeletal maturation,
cataracts, enamel hypoplasia, neutropenia, microcephaly,
mental retardation 
Am J Med Genet 66:378–398, 1996
Trichothiodystrophy syndromes (Tay syndrome) – BIDS, IBIDS,
PIBIDS – poikiloderma, sparse or absent eyelashes and
eyebrows, brittle hair, premature aging, sexual immaturity,
ichthyosis, dysmyelination, bird-like facies, dental caries;
trichothiodystrophy with ichthyosis, urologic malformations,
hypercalciuria and mental and physical retardation 
JAAD
44:891–920, 2001; Ped Derm14:441–445, 1997; Eur J Pediatr
141:147–152, 1984; trichothiodystrophy, mental retardation,
short stature, ataxia, and gonadal dysfunction 
Am J Med Genet
35:566–573, 1990; with XP group D mutation JAAD
16:940–947, 1987
Tuomaala–Haapanen syndrome (brachymetapody, anodontia,
hypotrichosis, albinoid trait) 
Acta Ophthalmol 46:365–371, 1968
Vertebral and eye anomalies, cutis aplasia, and short stature
(VECS) 
Am J Med Genet 77:225–227, 1998
Watson’s syndrome – café au lait macules, axillary and perianal
freckling, pulmonic stenosis, low intelligence, short stature
JAAD 46:161–183, 2002; JAAD 40:877–890, 1999
Werner’s syndrome – 
Leuk Lymphoma 21:509–513, 1996
Wiedemann–Rautenstrauch syndrome (neonatal progeroid
syndrome) – autosomal recessive; aged facies at birth, frontal
and biparietal bossing, scalp with sparse hair and prominent
veins, retarded psychomotor development; death by age five
Eur J Pediatr 136:245–248, 1981
Winchester syndrome (hereditary contractures with
sclerodermatoid changes of skin) – scleredema-like skin
changes, joint contractures, gingival hyperplasia, dwarfism,
arthritis of small joints, corneal opacities 
JAAD 50:S53–56,
2004; Am J Med Genet 26:123–131, 1987; J Pediatr
84:701–709, 1974; Pediatrics 47:360–369, 1971
X-aneuploidy variants 
Syndromes of the Head and Neck, p.58,
1990
49,XXXXX syndrome 
Syndromes of the Head and Neck, p.63,
1990
49,XXXXY syndrome 
Syndromes of the Head and Neck, p.59,
1990