Heart hand syndromes are characterized by radial abnormalities and associated defects in the heart. We here describe an extremely rare heart hand syndrome known as Baller-Gerold syndrome.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina, with bilateral nonfunctional rudimentary uteri. The MRKH syndrome is frequently associated with anomalies of the urinary tract, skeleton, and less frequently with cardiac defects. Ovarian function is normal, and the karyotype of the patients is always 46,XX. The authors describe the associat...

In this BMJ Confidential (BMJ 2014;349:g7093, doi:10.1136/ bmj.g7093) Kim Holt said that, if she could be invisible for 24 hours, she would like to attend the discussions at the Department of Health on the Francis review. In editing the piece, we mistakenly referred to this as being the Francis inquiry into the Mid Staffordshire Foundation Trust, which was chaired by Robert Francis and publishe...

Congenital cardiovascular malformations (CVMs) are the most common birth defect, affecting approximately 8 per 1000 live births. Roughly 25% of CVMs occur in the context of multiple congenital anomalies or as part of a genetic syndrome, while the other 75% of individuals present as an isolated, nonsyndromic CVM.1 Genomic disorders comprise the majority of syndomic CVMs, exemplified by aneuploid...

Sanchez Cascos, A. (1972). Archives of Disease in Childhood, 47, 581. Genetics of atrial septal defect. Of 109 cases of atrial septal defect, cases with an isolated defect (92 cases) showed a female preponderance (sex ratio 0 64), but there was a higher risk to the sibs of the male patients, suggesting a multifactorial mechanism. Dermatoglyphs showed a large number of whorls on the fingers. In ...

We describe clinical presentation in a male newborn baby who presented with thumb aplasia, forearm hypoplasia and secundum atrial septal defect (ASD II). The child has no other bone anomalies or facial dysmorphism. The ultrasound morphology of the brain is normal. He has patent ductus arteriosus, without abnormalities in the ECG record. Complete blood count (CBC) is normal. In the spectrum of h...