A review of prenatally detected femoral abnormalities
Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?
Confirmation of microcephaly–facio–cardio–skeletal Hadziselimovic type syndrome
Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende–Gupta syndrome phenotypic similarities
Griscelli syndrome type 1: a report of two cases and review of the literature
Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome
Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome)
Severe midline craniofacial anomalies: overlap with Pai syndrome
A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?
Nasal encephalocele in a child with mosaic trisomy 14
Holoprosencephaly in an 8.5-week triploidy gestation
X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene
Punctate calcifications in lysosomal storage disorders
A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings
Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance