Otopalatodigital syndrome
Arch Otolaryngol 85:394–399, 1967
Panhypopituitary dwarfism – short stature, excess
subcutaneous fat, high pitched voice, soft, wrinkled skin, child-
like facies
Birth Defects 12:15–29, 1976
Pansclerotic morphea
Ped Derm 19:151–154, 2002
Polydysplastic epidermolysis bullosa
Rook p.3261, 1998,
Sixth Edition
Premature aging syndrome with osteosarcoma, cataracts,
diabetes mellitus, osteoporosis, erythroid macrocytosis, severe
growth and developmental deficiency
Am J Med Genet
69:169–170, 1997
Pseudoxanthoma elasticum with osteoectasia – dwarfism,
radiographic changes, increased alkaline phosphatase
Clin Exp
Dermatol 7:605–609, 1982
Restrictive dermopathy (stiff skin syndrome) – severe intrauterine
growth retardation; micrognathia, fixed facial expression, low-set
ears, pinched nose, O-shaped mouth, flexion contractures, rigid,
translucent, inelastic skin
AD 138:831–836, 2002
Rhizomelic dwarfism – autosomal recessive; chondrodysplasia
punctata with mild ichthyosis
Ped Derm 18:442–444, 2001
Ring chromosome 7, 11 – CALMs microcephaly, mental
retardation
Am J Med Genet 30:911–916, 1988; 12, and 15
syndromes
JAAD 40:877–890, 1999
Ritscher–Schinzel syndrome – autosomal recessive; Dandy
Walker-like malformation, atrioventricular canal defect, short
stature
Am J Med Genet 66:378–398, 1996
Robert’s syndrome (hypomelia–hypotrichosis–facial
hemangioma syndrome) – autosomal recessive; mid-facial port
wine stain extending from forehead to nose and philtrum, cleft
lip
+
/
−
cleft palate, sparse silver-blond hair, limb reduction
malformation, characteristic facies, malformed ears with
hypoplastic lobules, marked growth retardation
Clin Genet
31:170–177, 1987; Clin Genet 5:1–16, 1974
Rombo syndrome – acral erythema, cyanotic redness, follicular
atrophy (atrophoderma vermiculata), milia-like papules,
telangiectasias, red ears with telangiectasia, thin eyebrows,
sparse beard hair, basal cell carcinomas, short stature
BJD
144:1215–1218, 2001
Rothmund–Thomson syndrome (poikiloderma congenitale) –
autosomal recessive; scalp hair sparse and fine
Ped Derm
18:210–212, 2001; Am J Med Genet 22:102:11–17, 2001; Ped
Derm 18:210212, 2001; Ped Derm 16:59–61, 1999; Rook p.417,
1998, Sixth Edition; Dermatol Clin 13:143–150, 1995; JAAD
27:75–762, 1992; BJD 122:821–829, 1990; Ped Derm
6:325–328, 1989; Ped Derm 6:321–324, 1989; JAAD
17:332–328, 1987; JAAD 17:332–338, 1987; Arch Ophthalmol
(
German) 4:159, 1887
Rubenstein–Taybi syndrome – arciform keloids, hypertrichosis,
long eyelashes, thick eyebrows, keratosis pilaris or ulerythema
ophyrogenes, low-set ears, very short stature, broad terminal
phalanges of thumbs and great toes, hemangiomas, nevus
flammeus, café au lait macules, pilomatrixomas, cardiac
anomalies, mental retardation
Ped Derm 19:177–179, 2002;
Am J Dis Child 105:588–608, 1963
Russell–Silver syndrome – intrauterine and post-natal growth
retardation; triangular facies, childhood hyperhidrosis, limb
asymmetry, café au lait macules, blue sclerae, achromia, 5th
finger clinodactyly, genital dysmorphia
SADDAN syndrome – autosomal dominant; short stature,
severe tibial bowing, severe achondroplasia with profound
developmental delay and acanthosis nigricans
BJD
147:1096–1011, 2002; Am J Med Genet 85:53–65, 1999
Satoyoshi syndrome – alopecia areata with progressive painful
intermittent muscle spasms, diarrhea or unusual malabsorption,
endocrinopathy with amenorrhea (hypothalamic dysfunction),
very short stature, flexion contractures, skeletal abnormalities
Ped Derm 18:406–410, 2001; AD 135:91–92, 1999
Say–Barber syndrome – short stature, microcephaly, large ears,
flexion contractures, decreased subcutaneous fat; dermatitis in
infancy with transient hypogammaglobulinemia
Am J Med
Genet 86:165–167, 1999; Am J Med Genet 45:358–360, 1993
Schimke immunoosseous dysplasia – disproportionate short
stature, spondyloepiphyseal dysplasia, progressive nephropathy,
episodic lymphopenia, pigmentary skin changes
Am J Med
Genet 66:378–398, 1996
Schwachman syndrome – disproportionate short stature,
metaphyseal dysplasia, exocrine pancreatic insufficiency,
cyclic neutropenia
Am J Med Genet 66:378–398, 1996
Schwartz–Jampel syndrome (chondrodystrophic myotonia)
Am J Med Genet 66:378–398, 1996; J Neurol Neurosurg
Psychiat 41:161–169, 1978
Seckel’s syndrome – autosomal recessive; hair sparse and
prematurely gray, growth retardation, beak-like nose, large eyes,
skeletal defects
Am J Med Genet 12:7–21, 1982
SHORT syndrome – short stature, joint hyperextensibility, ocular
depression (deep-set eyes), Rieger anomaly, teething delay;
lipoatrophy of face
Clin Dysmorphol 8:219–221, 1999; Birth
Am J Med Genet 61:178–181, 1996; J Med Genet 26:473–475,
1989; Defects 11:46–48, 1975
Short limb skeletal dysplasia type 3 (disproportionate
short stature) – metaphyseal dysplasia, exocrine pancreatic
insufficiency, cyclic neutropenia
Am J Med Genet 66:378–398,
1996
Short stature, alopecia, and macular degeneration
Rook
p.3261, 1998, Sixth Edition
Short stature, characteristic facies, mental retardation, skeletal
anomalies, and macrodontia
Clin Genet 26:69–72, 1984
Short stature and delayed dental eruption
Oral Surg
41:235–243, 1976
Short stature and macrocephaly, mental retardation
Am J Med
Genet 21:697–705, 1985
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
Short stature, mental retardation, ocular abnormalities
Helv
Paediat Acta 27:463–469, 1972
Short stature, oligodontia
Syndromes of the Head and Neck
p.873, 1990
Short stature and osteopetrosis
Radiology 164:23–224, 1987
Short stature, premature aging, pigmented nevi
J Med Genet
25:53–56, 1988
Short stature, sensorineural hearing loss, low nasal bridge, cleft
palate
Am J Med Genet 21:317–324, 1985
Short stature and short thin dilacerated dental roots
Oral Surg
54:553–559, 1982
Short stature and solitary maxillary central incisor
J Pediatr
91:924–928, 1977
Smith–Fineman–Myers syndrome (unusual facies, short stature,
and mental deficiency)
Am J Med Genet 22:301–304, 1985
Stanescu osteosclerosis syndrome – short stature,
brachycephaly, hypoplastic midface, ocular proptosis,
micrognathia, brachydactyly, dense cortices of long bones
J Genet Hum 29:129–139, 1981
Stickler syndrome (hereditary arthroophthalmopathy) –
autosomal dominant; flat midface, cleft palate, myopia with
retinal detachment, cataracts, hearing loss, arthropathy
J Med
Genet 36:353, 359, 1999; Birth Defects 11:77–103, 1975
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