Holt-Oram Syndrome Rare Hand-Heart Disorder

Back ground: Holt-Oram is rare autosomal disorder, clinically characterised by congenital cardiac defects and morphological abnormalities of the upper limbs. Case characteristics:10 days old neonate born to first degree consangunious parents presented with upper limb anomaly and cardiac defects. Obseravations : Hypoplastic left thumb with ASD, VSD and PDAwas present. Message- Neonate with upper limb anomaly should be evaluated for congenital hear disease

A case of ulnar hemimelia -- rare anomaly.

When one side of the distal half of limb [leg or forearm] is absent, such cases are termed as hemimelia. Ulnar hemimelia is a very rare congenital anomalies, occurs in about 1 in 150,000. It is characterized by partial or complete absence of ulna, radial bowing, fixed or mobile elbow with abnormal digits. Most of the cases are unilateral [67%], mainly involves right side [69%] and more common in males [2:1]. In our case, a working boy presented with deformed right upper limb with tridactyly and elbow was fixed in extension. Xray examination revealed partial absence of ulna. The most critical period for the development of limb anomalies is from 24-36 days of embryonic life. Hence early diagnosis in antenatal period can reduce the occurrences. Management of such cases is highly individualized and mainly involves the improvement of function. In this case boy was independent in his daily routine activities hence no treatment required.c

Unusual Branching Pattern of Brachial Artery with Abnormal Superficial Palmar Arch

Brachial artery is the chief artery of upper limb. Superficial palmar arch plays an important role in most of the traumatic events and the surgical procedures of the hand. The arterial variations of upper limb are useful for vascular surgeons, interventional radiologists, plastic surgeons. The authors report a case of high origin of superficial ulnar artery with abnormal formation of superficial palmar arch.

47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly: A case report / 대한산부인과학회지

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.