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Craniosynostosis associated with intracranial calcification: a novel recessive syndrome
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up
Further delineation of Hennekam syndrome
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient
Nicolaides–Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
A female infant with duplication of chromosome 2q33 to 2q37.3
Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH
Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation
Type 1 Arnold–Chiari malformation and Noonan syndrome. A new diagnostic feature?
Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia
Catel–Manzke syndrome without cleft palate: a case report
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet
A case of dextrocardia, radial ray malformation and renal anomaly