The Coffin-Siris syndrome.
A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.
D000015:Abnormalities, Multiple / Q000235:genetics*; D006332:Cardiomegaly / Q000000981:diagnostic imaging / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics; D006197:Hair; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D008831:Microcephaly; D009264:Nails, Malformed / Q000235:genetics; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D012141:Respiratory Tract Infections; D013577:Syndrome; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging