synophrys, pinched nose, thin skin, sparse hair, large
malformed ears, thin lips
Eur J Pediatr 144:348–354, 1985
Depigmented hypertrichosis with dilated follicular pores, short
stature, scoliosis, short broad feet, dysmorphic facies,
supernumery nipple, and mental retardation (cerebral-ocular
malformations)
BJD 142:1204–1207, 2000
Down’s syndrome
Syndromes of the Head and Neck p.35, 1990
Dyskeratosis congenita
Ectodermal dysplasia with sparse hair, short stature,
hypoplastic thumbs, single upper incisor, and abnormal skin
pigmentation
Am J Clin Genet 29:209–216, 1988
Epidermolysis bullosa, recessive dystrophic
Ped Derm
19:436–438, 2002
Familial dysautonomia (Riley–Day syndrome) (hereditary
sensory and autonomic neuropathy type III) – delayed growth
AD 89:190–195, 1964
Familial partial lipodystrophy, mandibuloacral dysplasia
variety – autosomal recessive; short stature, high pitched
voice, mandibular and clavicular hypoplasia, dental anomalies,
acro-osteolysis, stiff doints, cutaneous atrophy, alopecia, nail
dysplasia
Am J Med 108:143–152, 2000
GEMMS syndrome (glaucoma, lens ectopia, microspherophakia
(small, spherical lens), joint stiffness, and short stature;
cutaneous sclerosis of upper back and extremities
Am J Med
Genet 44:48–51, 1992
Goltz’s syndrome (focal dermal hypoplasia)
Rook p.3261, 1998,
Sixth Edition
Gorlin–Chaudhry–Moss syndrome – short and stocky with
craniosynostosis, midface hypoplasia, hypertrichosis of the
scalp, arms, legs, and back, anomalies of the eyes, digits,
teeth, and heart, and genitalia hypoplasia
Am J Med Genet
44:518–522, 1992
Hunter’s syndrome – decreased sulfoiduronate sulfatase
Ped
Derm 15:370–373, 1998
Hurler’s syndrome
Syndromes of the Head and Neck p.100,
1990
Hurler–Schei syndrome
Syndromes of the Head and Neck
p.105, 1990
Hypertrichosis cubiti (hairy elbow)
JAAD 48:161–179, 2003;
Clin Exp Dermatol 24:497–498, 1999; Clin Exp Dermatol
19:86–87, 1994; J Med Genet 26:382–385, 1989; with facial
asymmetry
Am J Med Genet 53:56–58, 1994
Hypohidrotic ectodermal dysplasia
Rook p.3261, 1998,
Sixth Edition
Hypopituitarism – hypopituitary dwarf; hairless
Rook
p.2704–2705,2914, 1998, Sixth Edition
Ichthyosis – failure to thrive
Ichthyosis Focus 23:1,4, 2004
Ichthyosis follicularis with atrichia and photophobia (IFAP)
Am J
Med Genet 85:365–368, 1999; Med Genet 44:233–236, 1992
Incontinentia pigmenti
JAAD 47:169–187, 2002
Infantile systemic hyalinosis – autosomal recessive; synophrys,
thickened skin, perianal nodules, dusky red plaques of buttocks,
gingival hypertrophy, joint contractures, juxta-articular nodules
(knuckle pads), osteopenia, growth failure, diarrhea, frequent
infections, facial red papules
JAAD 50:S61–64, 2004
Iron deficiency in infants and children – retarded growth
Rook
p.2666, 1998, Sixth Edition
Keratitis–ichthyosis–deafness (KID) syndrome – postnatal
growth deficiency in 50% of the cases
AD 115:467–471, 1979;
AD 113:1701–1704, 1977
Lesch–Nyhan syndrome
Arch Int Med 130:186–192, 1972
Lymphedema–distichiasis syndrome – periorbital edema,
vertebral abnormalities, spinal arachnoid cysts, congenital heart
disease, thoracic duct abnormalities, hemangiomas, cleft
palate, microphthalmia, strabismus, ptosis, short stature,
webbed neck
Ped Derm 19:139–141, 2002
Marinesco–Sjögren syndrome – sparse, fine, short, fair, brittle
hair, short stature, congenital cataracts, cerebellar ataxia
J Ped
65:431–437, 1964
Maroteaux–Lamy syndrome (pycnodysostosis)
Syndromes of
the Head and Neck p.113, 1990; Birth Defects 10:78–98, 1974
Microcephaly–lymphedema syndrome – autosomal dominant
Am J Med Genet 80:506–509, 1998
Morquio syndrome
Syndromes of the Head and Neck p.100, 1990
Mulibrey nanism
Act Ophthalmol 52:162–171, 1974
Neu–Laxova syndrome – rudimentary eyelids, polyhydramnios,
growth retardation, microcephaly, ichthyosis, thick
hyperkeratotic skin
Am J Med Genet 43:602–605, 1992
Neurofibromatosis
Rook p.380, 1998, Sixth Edition
Noonan’s syndrome – short stature or normal height with broad
short, webbed neck, lymphedema of feet and legs, orbital
edema, leukokeratosis of lips and gingiva, low posterior hairline,
hypertrichosis of cheeks or shoulders, ulerythema
oophyrogenes
JAAD 46:161–183, 2002; Arch Dis Child
84:440–443, 2001; JAAD 40:877–890, 1999
Odonto-trichomelic syndrome – autosomal recessive; severe
hypotrichosis, few small conical teeth, hypoplastic or absent
areolae, cleft lip, tetramelic dysplasia, short stature
Hum Hered
22:91–95, 1972
Oto-palatal–digital syndrome – short stature, distinctive facies,
cleft palate, hearing loss, short thumbs and big toes
Am J Dis
Child 113:214–221, 1967
Pituitary dwarfism
Rook p.2704–2705, 1998, Sixth Edition
Porphyria – congenital erythropoietic porphyria
Semin Liver Dis
2:154–63, 1982
Prader–Willi syndrome – obesity, hypogonadism,
cryptorchidism, mental retardation, hypotonia,
disproportionately small hands
Dermatol Clin 10:609–622, 1992
Rabson–Mendenhall syndrome – autosomal recessive; insulin-
resistant diabetes mellitus, growth retardation, fissured tongue,
unusual facies (prominent jaw), dental precocity, hypertrichosis,
acanthosis nigricans, onychauxis, and premature sexual
development, pineal hyperplasia
Ped Derm 19:267–270, 2002
Ramon syndrome – cherubism, gingival fibromatosis, epilepsy,
mental deficiency, hypertrichosis, and stunted growth
Am J Med
Genet 25:433–441, 1986
Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal
dominant; alopecia of wide area of scalp in frontal to crown
area, short eyebrows and eyelashes, coarse wiry sparse
hypopigmented scalp hair, sparse body hair, scalp dermatitis,
ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or
palate; nails narrow and dystrophic, small stature, hypospadius,
conical teeth and anodontia or hypodontia; distinctive facies,
short stature
JAAD 53:729–735, 2005; Ped Derm 7:126–131,
1990; J Med Genet 15:269–272, 1968
Ring chromosome 17 – multiple café au lait macules, short
stature
Ped Derm 22:270–275, 2005
Robinow syndrome – overfolded helix
Eur J Pediatr
151:586–589, 1992; Am J Med Genet 35:64–68, 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, large keloids, cardiac defects; mutations or deletions
of chromosome 16p13.3; human cAMP response element
binding protein
Ped Derm 21:44–47, 2004; JAAD 46:161–183,
2002; JAAD 46:159, 2002; Cutis 57:346–348, 1996; Am J Dis
Child 105:588–608, 1963
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