EP11.05: Streeter syndrome 3D observation of amnion dysmorphism

Association of Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRD) with Down syndrome

Hypoparathyroidism-Retardation-Dysmorphism (HRD) syndrome, also known as Sanjad Sakati Syndrome (SSS), is a rare autosomal recessive genetic condition seen in offspring of consanguineous parents of Middle Eastern origin. HRD consists of hypoparathyroidism leading to hypocalcemia and hyperphosphatemia, growth retardation, and characteristic dysmorphic features. This case presents a Saudi baby gi...

Edward Clark Streeter, 1874-1947

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was recently mapped to chromosome 5q31, but there is evidence for genetic heterogeneity, and no gene has ...

Digitotalar dysmorphism: Molecular elucidation.

Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and 'rocker-bottom' feet due to a vertical talus, was first described in a South African family of European stock in 1972. We review the clinical manifestations and document the molecular basis for DTD in this prototype family. This family was restudied in 1995 and 2006 and biological sp...

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

PURPOSE The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molec...