Schneiderman Prelims Vol-I. qxd

SYNDROMES
Ablepharon macrostomia syndrome with cutis laxa 
Hum Genet
97:532–536, 1996
Acrogeria of the Gottron type 
Eur J Dermatol 10:36–40, 2000
Alagille syndrome – cutis laxa-like changes with resolution of
xanthomas after liver transplantation 
Ped Derm 15:199–202, 1998
Ankyloblepharon–ectrodactyly–cleft lip/palate syndrome
(AEC syndrome) – periorbital wrinkling
Ascher syndrome 
Int J Derm 31:710–712, 1992
Barber–Say syndrome – autosomal dominant; wrinkled lax,
atrophic skin, hypertrichosis of back and neck, eyebrows,
eyelashes, lower lid ectropion, large mouth, and abnormal
external ears, hypoplastic or absent nipples, growth retardation
Am J Med Genet 86:54–56, 1999
Beare–Stevenson cutis gyrata syndrome – redundant loose
facial skin
Cantu syndrome
Chromosome 6q deletion syndrome – cutaneous and joint laxity
Ped Derm 11:281–282, 1994
Coffin–Lowry syndrome – X-linked inheritance; straight coarse
hair, prominent forehead, prominent supraorbital ridges,
hypertelorism, large nose with broad base, thick lips with mouth
held open, large hands, tapering fingers, severe mental
retardation; loose skin easily stretched, cutis marmorata,
dependent acrocyanosis, varicose veins 
Clin Genet
34:230–245, 1988; Am J Dis Child 112:205–213, 1966
Costello syndrome – loose skin of neck, hands and feet;
papillomas around nose and mouth 
J Med Genet
31:486–489, 1994
Cutis laxa – autosomal dominant; mild disease of late onset;
mutation in elastin gene 
AD 140:1135–1139, 2004; Ped Derm
21:167–170, 2004; Clin Genet 39:321–329, 1991
Cutis laxa type I – autosomal recessive; diaphragmatic hernia,
gastrointestinal and genitourinary diverticulae, pulmonary
emphysema, cardiac abnormalities 
Ped Derm 21:167–170, 2004
Cutis laxa type II – autosomal recessive; pre and postnatal
growth retardation, delayed motor development, delayed closure
of large fontanelle, congenital hip dislocation, bone dysplasias,
parallel strips of redundant skin of back 
Ped Derm 21:167–170,
2004
Cutis laxa type III – autosomal recessive; severe mental
retardation, corneal clouding 
Ped Derm 21:167–170, 2004
Cutis laxa – X-linked recessive (occipital horn syndrome;
formerly Ehlers–Danlos type IX) – lysyl oxidase deficiency,
skeletal dysplasias, joint hypermobility, chronic diarrhea,
obstructive uropathy 
Ped Derm 21:167–170, 2004
Cutis laxa, congenital with ligamentous laxity, delayed
development, Dandy–Walker malformation, minor heart and
osseous defects 
Clin Genet 45:318–322, 1994
Cutis laxa with bone dystrophy (osteoporosis) 
Am J Dis Child
137:452–454, 1983
Cutis laxa, craniofacial defects, and hypotonia 
J Clin
Dysmorphol 1:24–25, 1983
Cutis laxa with early-onset emphysema 
Thorax 49:836–837,
1994
Cutis laxa, late closure of fontanels, intrauterine growth
retardation, hyperlaxity of joints 
Pediatrics 72:850–856, 1983
DeBarsy syndrome – autosomal recessive progeroid syndrome;
lax wrinkled skin; cloudy corneas, mental retardation,
pseudoathetoid movements, synophrys, pinched nose, thin skin,
lack of subcutaneous tissue, sparse hair 
Ped Derm 19:412–414,
2002; Eur J Pediatr 144:348–354, 1985
Duplication of the eyebrows, stretchable skin and syndactyly
Dwarfism–alopecia–pseudoanodontia–cutis laxa
Edward’s syndrome (trisomy 18) – cutis laxa of neck,
hypertrichosis of the forehead and back, hemangiomas 
J Med
Genet 15:48–60, 1978
Ehlers–Danlos syndrome – scarring; cutis laxa complicating
Ehlers–Danlos syndrome type II 
Clin Exp Derm 21 (2):
135–137, 1996; Ehlers–Danlos syndrome type IX – X-linked
Elejalde syndrome (acrocephalopolydactylous dysplasia) 
Birth
Defects 13:53–67, 1977
Gerodermia osteodysplastica (Bamatter syndrome)
(osteodysplastic geroderma) – short stature, cutis laxa-like
changes with drooping eyelids and jowls (characteristic facies),
osteoporosis and skeletal abnormalities; lax skin and joints,
growth retardation 
Am J Med Genet 3:389–395, 1979; Hum
Genet 40:311–324, 1978
Hemolytic anemia with emphysema and cutis laxa
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa,
corneal lattice dystrophy, cranial and peripheral polyneuropathy
BJD 152:250–257, 2005