Diastrophic dysplasia – cystic ear during hemorrhagic phase;
calcifies
J Bone Jt Surg 50A:113–118, 1968
Distal aphalangia, syndactyly, extra metatarsal, short stature,
microcephaly, borderline intelligence – autosomal dominant
Am J Med Genet 55:213–216, 1995
DNA ligase I deficiency – short stature, photosensitivity
Am J Med Genet 66:378–398, 1996
Down’s syndrome – short stature, cutis marmorata,
acrocyanosis, low-set, small ears
JAAD 46:161–183, 2002;
Rook p.3015–3016, 1998, Sixth Edition
Dubowitz syndrome – autosomal recessive, erythema and scaling
of face and extremities in infancy, sparse blond scalp and eyebrow
hair, high pitched hoarse voice, delayed eruption of teeth, growth
retardation, craniofacial abnormalities; developmental delay,
transitory short stature, hyperactive behavior, blepharophimosis,
ptosis of the eyelids, micrognathia, sparse scalp and eyebrow hair,
and atopic dermatitis
Am J Med Genet 63:277–289, 1996; Eur J
Pediatr 144:574–578, 1986; Am J Med Genet 4:345–347, 1979
Dwarfism–alopecia–pseudoanodontia–cutis laxa; autosomal
recessive; generalized atrichia, unerupted teeth, hyperconvex
nails, cutis laxa with fragile skin, dwarfism, deafness, eye
anomalies
Cien Cult 34 (Suppl):705, 1982
Dwarfism, bilateral club feet, premature aging, progressive
panhypogammaglobulinemia
J Rheumatol 21:961–963, 1994
Dyggve–Melchior–Clausen syndrome – short trunk dwarfism
and mental retardation
Clin Genet 14:24–30, 1978
Dysosteosclerosis – oligodontia
Birth Defects 11:349–351, 1975
Ehlers–Danlos syndrome type VII (arthrochalasis multiplex
congenita)
J Med Genet 24:698–701, 1987; J Bone Jt Surg
40:663, 1958; type IV Rook p.2035, 1998, Sixth Edition
Ellis–van Creveld syndrome (chondroplastic dwarf with
defective teeth and nails, and polydactyly) – autosomal
recessive; chondrodysplasia, polydactyly, peg-shaped teeth
or hypodontia, short upper lip bound down by multiple frenulae;
nail dystrophy, hair may be normal or sparse and brittle; cardiac
defects; ichthyosis, palmoplantar keratoderma
Ped Derm
18:485–489, 2001; J Med Genet 17:349–356, 1980; Arch Dis
Child 15:65–84, 1940
Familial eosinophilic cellulitis, short stature, dysmorphic habitus,
and mental retardation – bullae, vesicles, and red plaques
JAAD 38:919–928, 1998
Femoral hypoplasia–unusual facies syndrome
J Pediatr
86:107–111, 1975
Fetal alcohol syndrome – short stature, angiomas,
hypertrichosis
JAAD 46:161–183, 2002
Fetal hydantoin syndrome – short stature, hypertrichosis,
hypoplastic distal phalanges
JAAD 46:161–183, 2002
Filippi syndrome – short stature, microcephaly, characteristic face,
syndactyly, mental retardation
Genet Couns 4:147–151, 1993
Fleisher syndrome – X-linked, proportionate short stature,
hypogammaglobulinemia, isolated growth hormone deficiency
Am J Med Genet 66:378–398, 1996
Frydman syndrome – autosomal recessive; prognathism,
syndactyly, short stature, blepharophimosis, weakness of
extraocular and frontal muscles, synophrys
Clin Genet
41:57–61, 1992
GAPO syndrome – growth retardation, alopecia,
pseudoanodontia, progressive optic atrophy
J Craniofac Genet
Dev Biol 19:189–200, 1999; Am J Med Genet 19:209–216, 1984
Geleophysic dysplasia
Am J Med Genet 19:483–486, 1984
Gerodermia osteodysplastica (Bamatter syndrome)
J Genet
Hum 17:137–178, 1969
Gingival fibromatosis, hypertrichosis, cherubism, mental and
somatic retardation, and epilepsy (Ramon syndrome)
Am J Med
Genet 25:433–442, 1986
Hajdu–Cheney syndrome (acroosteolysis) – dissolution of the
terminal phalanges, abnormally shaped skull, premature loss of
teeth, short stature; thick scalp and eyebrow hair with
synophrys; hypertrichosis and hyperelastic skin
Int J Oral Surg
14:113–125, 1985; J Periodontol 55:224–229, 1984; Am J Med
65:627–636, 1978; J Pediatr 88:243–249, 1976
Hallermann–Streiff syndrome – partial anodontia, short stature,
atrophy and telangiectasia of central face, parrot-like
appearance, microphthalmia, cataracts, high-arched palate,
small mouth, sutural alopecia
JAAD 50:644, 2004; Birth Defects
18:595–619, 1982
Hunter’s syndrome – reticulated 2–10-mm skin-colored papules
over scapulae, chest, neck, arms; X-linked recessive; MPS type
II; iduronate-2 sulfatase deficiency; lysosomal accumulation of
heparin sulfate and dermatan sulfate; short stature, full lips,
coarse facies, macroglossia, clear corneas (unlike Hurler’s
syndrome), progressive neurodegeneration, communicating
hydrocephalus, valvular and ischemic heart disease, lower
respiratory tract infections, adenotonsillar hypertrophy, otitis
media, obstructive sleep apnea, diarrhea, hepatosplenomegaly,
skeletal deformities (dysostosis multiplex), widely spaced teeth,
dolichocephaly, deafness, retinal degeneration, inguinal and
umbilical hernias
Ped Derm 21:679–681, 2004; macrocephaly
Ghatan p.199, 2002, Second Edition
Hurst syndrome – short stature, hypertonia, unusual facies,
mental retardation, hemolytic anemia, delayed puberty
Am J Med
Genet 29:107–115, 1988; Am J Med Genet 28:965–970, 1987
Hutchinson–Gilford syndrome (progeria) – loss of subcutaneous
tissue, hyper- and hypomelanosis, alopecia, mid-facial cyanosis
around mouth and nasolabial folds, decreased sweating,
sclerodermoid changes, cobblestoning of soft pebbly nodules
Am J Med Genet 82:242–248, 1999; Rook p.3261, 1998,
Sixth Edition
Hydrocephalus
J Pediatr Endocrinol Metab 9:181–187, 1996
Hyper-IgE syndrome – papular, pustular, excoriated dermatitis
of scalp, buttocks, neck, axillae, groin; furunculosis; growth
failure
Clin Exp Dermatol 11:403–408, 1986; Medicine
62:195–208, 1983
Hypertelorism–microtia–clefting syndrome (Bixler syndrome)
J Med Genet 387–388, 1982
Hypochondroplasia
J Bone Jt Surg 51A:728–736, 1969
Ichthyosis – rarely severe in infants due to failure to thrive
Ichthyosis Focus 23:1,4, 2004
Johanson–Blizzard syndrome – aplasia cutis congenita of the
scalp, sparse hair, deafness, absence of permanent tooth buds,
hypoplastic ala nasi, dwarfism, microcephaly, mental
retardation, hypotonia, pancreatic insufficiency with
malabsorption, hypothyroidism, genital and rectal anomalies
Clin Genet 14:247–250, 1978; J Pediatr 79:982–987, 1971
Juvenile hyaline fibromatosis (infantile systemic hyalinosis) –
nodular perianal lesions, ears, lips, gingival hypertrophy,
hyperpigmentation, flexion contractures of joints, osteolytic
defects, stunted growth
Dermatology 190:148–151, 1995; Ped
Derm 11:52–60, 1994
Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent malformed ears), cutis laxa,
hyperextensible joints, syndactyly, fetal finger pads with
abnormal dermatoglyphics, mental retardation
JAAD S247–251,
2005; Am J Med Genet 94:170–173, 2000; Am J Med Genet
31:565–589, 1988; J Pediatr 105:849–850, 1984; J Pediatr
99:565–569, 1981
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