Intraoperative absent bilateral medial recti in syndromic craniosynostosis

Patients with syndromic craniosynostosis are usually associated with the complexity of the malformation complex. We describe here detailed oculo-motility disorder and a remarkable finding of hypoplastic bilateral media recti on imaging and its intraoperative absence in patients with phenotypic features resembling Shprintzen-Goldberg syndrome (SGS). SGS is a rare congenital disorder with craniosynostosis affecting multiple systems including mentation and having a considerable overlap of its phenotypic features with Marfan syndrome. Large A-pattern exotropia found in these patients may be related to the craniofacial features and their bearing on extraocular muscle development and function. In this paper, we aimed to sensitise ophthalmologists and strabismologists concerning the necessity to recognise syndromic associations of patients with craniosynostosis presenting with a large squint, be aware of the intraoperative surprises and consider the challenges in its management.

A forme fruste of Shone’s anomaly in a 65 year-old patient

Shone’s anomaly, a congenital cardiac malformation complex, consists of multiple levels of left heart obstruction. A rare case of an incomplete form of this anomaly discovered incidentally during cardiac catheterization for an unrelated event is described.

Cloacal dysgenesis sequence in the first trimester of gestation

The autopsy data in 17 first trimester fetuses with cloacal dysgenesis sequence are presented. The prenatal ultrasound showed dilated bladder. Cytogenetic analysis of 16 cases carried out by chorion villus sampling or obtained from post-abortion tissues demonstrated normal karyotype. The complete autopsy revealed cystic dilated cloaca, smooth perineum, absence of anal opening and a phallus-like structure. There were 12 cases with isolated cloacal dysgenesis sequence and 5 cases with multiple malformations. In the latter group cloacal dysgenesis were associated with VACTERL association and non-classified multiple malformation complex.

Holt-Oram Syndrome: A Variety of Heart-Hand Syndrome

Holt-Oram syndrome (HOS) is a heart-upper limb malformation complex , is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12 and near complete penetrance but variable expression. Holt and Oram first described this syndrome in 1960. Approximately 40% of cases represent new mutations. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect(ASD), most commonly the secundum type; heart block of varying degree or both.The syndrome is characterized by cardiac malformations and aplasia or hypoplasia of the thumb. The incidence of HOS is estimated at 1:100,000 live births. In the literature, it is also known as atriodigital syndrome, heart-hand syndrome, upper limb-cardiovascular syndrome, cardiac-limb syndrome, or cardiomelic syndrome. Herein, we report a 45-year-old female case of HOS presenting a large ostium secundum type ASD along with congenitally fusion of carpal bones in both hands and absence of right first metacarpal bone with triphalagial thumb where as hypoplastic proximal phalange. In left hand, hypoplastic first metacarpal bone and hypoplastic thumb with syndactyly of both thumb with index finger.University Heart Journal Vol. 13, No. 2, July 2017; 67-71