Schneiderman Prelims Vol-I. qxd

IMMUNE DEFICIENCY SYNDROMES WITH PYODERMAS
291
Schneiderman page 200-300.qxd 5/16/2006 6:49 PM Page 291

---

Primary intestinal lymphangiectasia – autosomal dominant,
lower limb edema, loss of immunoglobulin and lymphocytes into
gastrointestinal tract 
Am J Med Genet 66:378–398, 1996
Primary sclerosing cholangitis with immunodeficiency –
autosomal recessive 
Am J Med Genet 66:378–398, 1996
Propionic acidemia – autosomal recessive; acidosis, vomiting,
ketosis 
Am J Med Genet 66:378–398, 1996
Purine nucleoside phosphorylase deficiency – severe
immunodeficiency, neurologic findings, hemolytic anemia 
Am J
Med Genet 66:378–398, 1996
Ritscher–Schinzel syndrome – autosomal recessive; Dandy
Walker-like malformation, atrioventricular canal defect, short
stature 
Am J Med Genet 66:378–398, 1996
Rubinstein–Taybi syndrome – occasional immunodeficiency 
Am
J Med Genet 66:378–398, 1996
Schimke immuno-osseous dysplasia – disproportionate short
stature, spondyloepiphyseal dysplasia, progressive
nephropathy, episodic lymphopenia, pigmentary skin changes
Am J Med Genet 66:378–398, 1996
Schwachman syndrome – disproportionate short stature,
metaphyseal dysplasia, exocrine pancreatic insufficiency, cyclic
neutropenia 
Am J Med Genet 66:378–398, 1996
Schwartz–Jampel syndrome – autosomal recessive; occasional
immunodeficiency; epiphyseal dysplasia, short stature,
myotonic myopathy, myopia, joint contractures 
Am J Med Genet
66:378–398, 1996
Seckel syndrome – occasional immunodeficiency; bird-like
facies, microcephaly, mental retardation 
Am J Med Genet
66:378–398, 1996
Shokeir syndrome – proportionate short stature, absent thumbs,
anosmia, ichthyosiform dermatosis, congenital heart defect 
Am
J Med Genet 66:378–398, 1996
Short limb skeletal dysplasia type 3 – metaphyseal dysplasia,
exocrine pancreatic insufficiency, cyclic neutropenia 
Am J Med
Genet 66:378–398, 1996
Smith–Lemli–Opitz syndrome – autosomal recessive;
occasional immunodeficiency; cryptorchidism, partial syndactyly
of 2nd and 3rd toes, anteverted nostrils, defect in cholesterol
metabolism 
Am J Med Genet 66:378–398, 1996
Toriello syndrome – autosomal recessive; proportionate short
stature, prenatal growth deficiency, delayed skeletal maturation,
cataracts, enamel hypoplasia, neutropenia, microcephaly,
mental retardation 
Am J Med Genet 66:378–398, 1996
Transcobalamin II deficiency – autosomal recessive; transport
protein for B
12
, severe megaloblastic anemia, leukopenia,
thrombocytopenia 
Am J Med Genet 66:378–398, 1996
Turner syndrome – missing or abnormal X chromosome
(XO, isoX, ring X) 
Am J Med Genet 66:378–398, 1996
Vici syndrome – agenesis of corpus callosum, cleft lip,
cutaneous hypopigmentation, cataracts 
Am J Med Genet
66:378–398, 1996
Wiskott–Aldrich syndrome – chronic eczematous dermatitis
resembling atopic dermatitis, recurrent infections in male infants
(pyodermas, otitis media), thrombocytopenic purpura with
enlarged platelets 
Am J Med Genet 66:378–398, 1996
Xeroderma pigmentosum – autosomal recessive 
Am J Med
Genet 66:378–398, 1996