Although congenital deformities of the upper extremity occur commonly, their classification is difficult because they display numerous individual variations and combinations. It is generally thought that these anomalies are inherited, and we have been able to record a series of 5 members of a White family with unusual symmetrical bilateral congenital anomalies of the elbows, \\'fists and finger...

Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. It is caused by mutations of the TBX5 gene, a member of the T-box family that encodes a transcription factor. Molecular studies have demonstrated that mutations predicted to create null alleles cause substantial abnormalities in both the limbs and heart, and that missense mutations ...

Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecu...

The skeletal muscle sarcoplasmic reticulum calcium release channel, commonly known as ryanodine receptor type 1 (RyR1), is encoded by the RYR1 gene and specifically interacts with the voltage-dependent Ca2+-channel Cav1.1, localized at T-tubular membrane. The depolarization of the plasma membrane results in conformational changes in Cav1.1, which are transmitted directly to the RyR1 channel, ca...

INTRODUCTION Arhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency. CASE PRESENTATION A 13-year-old Caucasian boy with congenital arhinia presented for evaluation of delayed puberty and micropenis. We examined genes known to be associated with hypogo...

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...

The palm prints of patients with different types of cataract (total, nuclear, zonular, cortical and complicated) were analysed for main line terminations and compared with those of a random population. The cases were also grouped into congenital, juvenile and senile types for broader comparison. The results showed significant variations for all the 4 main line terminations (D, C, B and A) in se...

Anatomic variations in the insertion of the long head of the biceps tendon and superior labral complex have been described (Erickson et al. [1992] AJR Am. J. Roentgenol. 158:1091-1096; Kreitner et al. [1998] AJR Am. J. Roentgenol. 170:599-605; Mariani et al. [1997] Arthroscopy 13:499-501; Vangsness Jr. et al. [1994] J. Bone Joint Surg. Br. 76:951-954). To the authors' knowledge, there have been...

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated ...