Kenny syndrome (tubular stenosis)
Clin Pediatr 28:175–179, 1989
Kniest dysplasia (metatropic dysplasia)
Am J Med Genet
6:171–178, 1980
Langerhans cell histiocytosis – growth hormone deficiency due
to hypothalamic involvement
Rook p.2321, 1998, Sixth Edition;
NEJM 292:332–333, 1975
Lenz microphthalmia syndrome
Z Kenderheilkd 77:384–390, 1955
LEOPARD (Moynahan’s) syndrome – autosomal dominant;
CALMs, granular cell myoblastomas, steatocystoma multiplex,
small penis, hyperelastic skin, low-set ears, short webbed neck,
short stature, syndactyly
Ped Derm 20:173–175, 2003; JAAD
46:161–183, 2002; JAAD 40:877–890, 1999; J Dermatol
25:341–343, 1998; Am J Med 60:447–456, 1976; AD
107:259–261, 1973; Am J Dis Child 117:652–662, 1969
Leprechaunism – Donohue’s syndrome – decreased
subcutaneous tissue and muscle mass, characteristic facies,
severe intrauterine growth retardation, broad nose, low-set ears,
hypertrichosis of forehead and cheeks, loose folded skin at
flexures, gyrate folds of skin of hands and feet; breasts, penis,
clitoris hypertrophic
Ped Derm 19:267–270, 2002; Endocrinologie
26:205–209, 1988
Leri–Weill dyschondrosteosis – mesomelic short stature
syndrome with Madelung’s deformity; SHOX haploinsufficiency
like Turner’s syndrome
JAAD 50:767–776, 2004
Macrocephaly with cutis marmorata, hemangioma, and
syndactyly syndrome – macrocephaly, hypotonia,
hemihypertrophy, hemangioma, cutis marmorata telangiectatica
congenita, internal arteriovenous malformations, syndactyly,
joint laxity, hyperelastic skin, thickened subcutaneous tissue,
developmental delay, short stature, hydrocephalus
Ped Derm
16:235–237, 1999
Marden–Walker syndrome – autosomal recessive; mental
retardation, failure to thrive, microcephaly, immobility of facial
muscles, blepharophimosis, congenital joint contractures,
arachnodactyly, kyphoscoliosis, and transverse palmar creases
J Child Neurol 16:150–153, 2001
Martsolf syndrome – cataracts, facial dysmorphism,
microcephaly, short stature, hypogonadism
Am J Med Genet
1:291–299, 1978
Mastocytosis of the skin, short stature, conductive hearing loss,
and microtia
Clin Genet 37:64–68, 1990
MC/MR syndrome with multiple circumferential skin creases –
multiple congenital anomalies including high forehead,
elongated face, bitemporal sparseness of hair, broad eyebrows,
blepharophimosis, bilateral microphthalmia and microcornea,
epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks,
microstomia, cleft palate, enamel hypoplasia, micrognathia,
microtia with stenotic ear canals, posteriorly angulated ears,
short stature, hypotonia, pectus excavatum, inguinal and
umbilical hernias, scoliosis, hypoplastic scrotum, long fingers,
overlapping toes, severe psychomotor retardation, resembles
Michelin tire baby syndrome
Am J Med Genet 62:23–25, 1996
Microcephaly–lymphedema syndrome – with short stature
Am J Med Genet 280:506–509, 1998
Microphthalmia with linear skin defects (MIDAS syndrome) –
Xp22.3 deletion
Ped Derm 20:153–157, 2003
Monosuperocentroincisivodontic dwarfism
Clin Genet
32:370–373, 1987
Moore–Federman syndrome – short stature, stiffness of joints,
characteristic facies
J Med Gen 26:320–325, 1989
Mucopolysaccharidoses (Hunter’s, Hurler’s, Sanfilippo
syndromes)
JAAD 48:161–179, 2003
Mulibrey nanism – autosomal recessive; proportionate short
stature, prenatal growth deficiency, muscle weakness, abnormal
sella turcica, hepatomegaly, ocular fundi lesions
Am J Med
Genet 66:378–398, 1996
Multiple pterygium syndrome
Am J Dis Child 142:794–798,
1988; Eur J Pediatr 147:550–552, 1988; J Med Genet
24:733–749, 1987
Neu–Laxova syndrome – variable presentation; mild scaling to
harlequin ichthyosis appearance; ichythosiform scaling, increased
subcutaneous fat and atrophic musculature, generalized edema
and mildly edematous feet and hands, absent nails; microcephaly,
intrauterine growth retardation, limb contractures, low-set ears,
sloping forehead, short neck; small genitalia, eyelid and lip
closures, syndactyly, cleft lip and palate, micrognathia; autosomal
recessive; uniformly fatal
Ped Derm 20:25–27,78–80, 2003; Curr
Prob Derm 14:71–116, 2002; Clin Dysmorphol 6:323–328, 1997;
Am J Med Genet 35:55–59, 1990
Oculo-palato-cerebral dwarfism
Clin Genet 27:414–419, 1985
Osteodysplastic geroderma (Walt Disney dwarfism) – short
stature, cutis laxa-like changes with drooping eyelids and jowls,
osteoporosis and skeletal abnormalities
Am J Med Genet
3:389–395, 1979
Premature aging syndrome (Mulvihill–Smith syndrome) –
Mulvihill–Smith syndrome – autosomal dominant; short stature,
microcephaly, unusual birdlike facies (broad forehead, small
face, micrognathia) (progeroid with lack of facial subcutaneous
tissue), multiple pigmented congenital melanocytic nevi,
freckles, blue nevi, hypodontia, immunodeficiency with chronic
infections, high pitched voice, xerosis, telangiectasias, thin skin,
fine silky hair, premature aging, hypodontia, high-pitched voice,
mental retardation, sensorineural hearing loss, hepatomegaly
low birth weight, short stature, conjunctivitis, delayed puberty
Am J Med Genet 66:378–398, 1996; J Med Genet 31:707–711,
1994; Am J Med Genet 45:597–600, 1993
Naegeli–Franceschetti–Jadassohn syndrome variant –
reticulate pigmentary dermatosis with hypohidrosis and short
stature
Int J Dermatol 34:30–31, 1995
Nijmegen breakage syndrome – autosomal recessive;
microcephaly, mental retardation, prenatal onset short stature,
bird-like facies, café-au-lait macules
Am J Med Genet
66:378–398, 1996
Noonan’s syndrome
Cutis 67:315–316, 2001
Oculocutaneous albinism, dysmorphic features, short stature
Ophthalmic Paediatr Genet 11:209–213, 1990
Oliver–McFarlane syndrome – trichomegaly with mental
retardation, dwarfism, and pigmentary degeneration of the retina
JAAD 37:295–297, 1997; Can J Ophthalmol 28:191–193, 1993
Olmsted syndrome – periorificial keratotic plaques; congenital
diffuse sharply marginated transgradient keratoderma of palms
and soles, onychodystrophy, constriction of digits, diffuse
alopecia, thin nails, chronic paronychia, leukokeratosis of oral
mucosa, linear keratotic streaks, follicular keratosis, constriction
of digits (ainhum), anhidrosis, small stature; differential
diagnostic considerations include Clouston hidrotic ectodermal
dysplasia, pachyonychia congenita, acrodermatitis
enteropathica, Vohwinkel’s keratoderma, mal de Meleda, and
other palmoplantar keratodermas
Ped Derm 20:323–326, 2003;
AD 132:797–800, 1996; JAAD 10:600–610, 1984
Omenn syndrome – disproportionate short stature, short limb
skeletal dysplasia type 1; alopecia, eosinophilia, ichthyosiform
skin lesions, reticuloendotheliosis, erythroderma
Am J Med
Genet 66:378–398, 1996
Oral–facial–digital syndrome with acromelic short stature
Clin Dysmorphol 8:185–188, 1999; type VI Am J Med Genet
35:360–369, 1990
Osteoglophonic dysplasia
Eur J Pediatr 147:547–549, 1988
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