Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndro...

Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible exi...

This is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appr...

Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet function disorder that may be encountered in patients affected by JS. PTS is manifested by a mild lifelong bleeding tendency. Morphologically, the presence of large fused platelet alpha granules is chara...

We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not seem to fall into any previously descri...

Seckel syndrome is a rare disease, with autosomal recessive mode of inheritance. Clinically manifests as intrauterine and postnatal growth retardation along with microcephaly, receded forehead, micrognathia, hypoplastic ears and mental retardation. Here we present a case of two and a half months old boy with four days history of loose stools and fever with facial dysmorphism and growth retardat...

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47...

Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis of warfarin embryopathy in an obese woman on unsupervised warfarin prophylaxis at the 16th week of gestation. The fetus presented with facial ...

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorde...

Telvi et al' recently reported on a 27 month old girl with an unbalanced de novo translocation, t(X;21)(q28;ql 1), and diagnosed this child as having an incomplete form of Williams-Beuren syndrome (WBS). This was based on some symptoms specific to WBS, such as craniofacial dysmorphism, delayed psychomotor development, short stature, horseshoe kidneys, and a positive WBS score of + 4.09.2 We do ...