Beals–Hecht syndrome (contractural arachnodactyly) –
autosomal dominant; crumpled ears, arachnodactyly with
congenital joint contractures; confused with Marfan’s syndrome
J Bone Joint Surg 53:987–993, 1971
Beare–Stevenson cutis gyrata syndrome – malformed ears
Ped
Derm 20:358–360, 2003
Beckwith–Wiedemann syndrome – diagonal linear grooves of
the ear lobes, preauricular tags or pits, nevus flammeus of
central forehead and upper eyelids, macroglossia, macrosomia,
omphalocele or other umbilical anomalies
Syndromes of the
Head and Neck 1990:323–328
Borjeson–Forssman–Lehmann syndrome – large ears
Am J
Med Genet 19:653–664, 1984
Branchio-oto-renal syndrome – autosomal dominant,
chromosome 8q – abnormal pinna (small malformed ears),
prehelical pits, renal anomalies, branchial cleft fistulae and/or
cysts
C syndrome – malformed ears
Birth Defects 5:161–166, 1969
Carbohydrate–deficient glycoprotein syndrome – large ears;
emaciated appearance; lipoatrophy over buttocks; lipoatrophic
streaks extend down legs; high nasal bridge, prominent jaw,
inverted nipples, fat over suprapubic area and labia majora, fat
pads over buttocks; hypotonia
Textbook of Neonatal
Dermatology, p.432, 2001
Cardio-acro-facial syndrome (Rabenhorst syndrome) –
attached earlobes, cardiac lesions, narrow face with high
narrow nose
Z Kinderheilk 117:109–114, 1974
Cardio-facio-cutaneous syndrome – low-set ears
Carney complex – cutaneous myxomas of the ears (papules)
Cutis 62:275–280, 1998; JAAD 43:377–379, 2000; lentigines of
ears
JAAD 46:161–183, 2002
Cat eye syndrome – preauricular tags or pits
Acta Pediatr
Scand 63:623–626, 1974
Char syndrome – short philtrum, patulous lips, ptosis, low-set
pinnae
Birth Defects 14 (6B):303–305, 1978
CHARGE syndrome – coloboma, heart disease, choanal
atresia, somatic and mental retardation, genital hypoplasia,
low-set malformed small ears
JAAD 46:161–183, 2002;
Perspect Pediatr Pathol 2:173–206, 1975
Cleft lip and palate, abnormal ears, congenital heart defect,
skeletal abnormalities
Acta Paediatr Scand 70:767–769, 1981
Cleft lip and palate, pili torti, malformed ears, partial syndactyly
of fingers and toes, mental retardation
J Med Genet
24:291–293, 1987
Cockayne’s syndrome – autosomal recessive; short stature,
facial erythema in butterfly distribution leading to mottled
pigmentation and atrophic scars, premature aged appearance
with loss of subcutaneous fat and sunken eyes, canities, mental
deficiency, photosensitivity, disproportionately large hands, feet,
and ears, ocular defects, demyelination
J Med Genet
18:288–293, 1981
Coffin–Lowry syndrome – prominent ears
Hum Genet
36:271–276, 1977
Cohen syndrome – large ears
J Med Genet 17:430–432, 1980
Costello syndrome – low set protuberant ears, warty papules
around nose and mouth, legs, perianal skin; loose skin of neck,
hands, and feet; acanthosis nigricans; thick palmoplantar
surfaces with single palmar crease, gingival hyperplasia,
hypoplastic nails, moderately short stature, craniofacial
abnormalities, hyperextensible fingers, sparse curly hair,
perianal and vulvar papules, diffuse hyperpigmentation,
generalized hypertrichosis, multiple nevi
Ped Derm
20:447–450, 2003; JAAD 32:904–907, 1995; Aust Paediat
J 13:114–118, 1977
Cowden’s syndrome
Cri du chat syndrome (chromosome 5, short arm deletion
syndrome) – premature graying of the hair, pre-auricular skin
tag with low-set malformed ears
J Pediatr 102:528–533, 1983
Crouzon’s syndrome – low-set ears
Rook p.3016, 1998, Sixth
Edition
Cryptophthalmos syndrome (Fraser syndrome) – malformed
ears
Am J Med Genet 31:159–168, 1988
Del (18p) syndrome – large ears
Eur J Pediatr 123:59–66, 1976
Diastrophic dysplasia – cystic ear during hemorrhagic phase;
calcifies
J Bone Jt Surg 50A:113–118, 1968
DiGeorge sequence – small and pointed posteriorly angulated
ears
JAAD 46:161–183, 2002; J Pediatr 94:883–890, 1979
Deafness and ear pits – autosomal dominant; ear normal or
deformed
Laryngoscope 76:1277–1288, 1966; Br Med J
ii:1354–1356, 1955
Deletion of short arm of chromosome 4 (4p
−
syndrome) – ACC
of scalp with hypertelorism, beaked or broad nose,
microcephaly, low-set ears, pre-auricular tags or pits, mental
retardation
Am J Dis Child 122:421–425, 1971
Down’s syndrome – low-set, small ears
JAAD 46:161–183,
2002; Rook p.3015–3016, 1998, Sixth Edition
Duane retraction syndrome – small ears
Rook p.3015–3016,
1998, Sixth Edition
Dubowitz’s syndrome – severe eczema, sparse hair, sparse
arched eyebrows, dysplastic ear pinnae
Clin Exp Dermatol
19:425–427, 1994; Am J Med Genet 47:959–964, 1993
Dup (11q) syndrome – preauricular pits or tags
Clin Genet
25:295–299, 1984
Ehlers–Danlos syndrome – unusual appearance of ears
Farber’s disease (disseminated lipogranulomatosis) – red
papules and nodules of joints and tendons of hands and feet;
deforming arthritis; papules, plaques, and nodules of ears, back
of scalp and trunk
Rook p.2642, 1998, Sixth Edition; Am J Dis
Child 84:449–500, 1952
Fetal alcohol syndrome – malformed ears
Drug Alcohol Depend
14:1–10, 1984
Fetal hydantoin syndrome – malformed ears
Am J Dis Child
127:758, 1974
FG syndrome – unusual facies, mental retardation, congenital
hypotonia, imperforate anus; small ears
Am J Med Genet
12:147–154, 1982
Fibroblastic rheumatism – symmetrical polyarthritis, nodules
over joints and on palms, elbows, knees, ears, neck, Raynaud’s
phenomenon, sclerodactyly; skin lesions resolve spontaneously
AD 139:657–662, 2003; AD 131:710–712, 1995; Clin Exp
Dermatol 19:268–270, 1994; Rev Rheum Ed Fr 47:345–351,
1980
Finlay–Marks syndrome (scalp–ear–nipple syndrome) – nipple
or breast hypoplasia or aplasia, aplasia cutis congenita of scalp,
abnormal ears and teeth, nail dystrophy, syndactyly, reduced
apocrine secretion
Bolognia p.924, 2003
First and second branchial arch cleft syndromes – small ears
Rook p.3015–3016, 1998, Sixth Edition
Fragile X syndrome – large ears
J Ment Defic Res 27:211–226,
1983
François syndrome (dermochondrocorneal dystrophy) – knuckle
pads; nodules on hands, nose, and ears
Ann DV 104:475–478,
1977; AD 124:424–428, 1988
Goldenhaar syndrome (oculo-auriculo-vertebral syndrome) –
macroglossia, preauricular tags, small abnormal pinnae, low-set
ears, facial asymmetry, macrostomia, epibulbar dermoids, facial
weakness, central nervous system, renal, and skeletal
anomalies
JAAD 50:S11–13, 2004; Am J Med Genet
26:361–375, 1987
Do'stlaringiz bilan baham: 
