Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochon...

A bulbous nasal tip is commonly seen in Asians; its correction represents a significant portion of Asian rhinoplasties. Bulbous tip correction in Caucasians mainly aims at reducing excess lower lateral cartilage and performing suture techniques on well-developed lower lateral cartilage [1-4]. Asians with a bulbous tip have a small, weak lower lateral cartilage and nasal septum [5,6]. Therefore,...

Children presenting neurological problems and a history of “not cried immediately at birth” are labeled to have cerebral palsy due birth asphyxia. Although this may be true in many situations, the presence some additional features help determine an alternate diagnosis. We present such case with A child asphyxia was as global developmental delay or by treating doctors. However, had certain dysmo...

The ejaculatory mechanism involves 2 reflexes: the "glans-vasal," which seems to bring the semen to the posterior urethra (emission phase of ejaculation), and the "urethromuscular" which ejects it to the exterior (ejection phase). This study investigated the mechanism of bulbocavernosus muscle (BCM) contraction, once the seminal fluid reaches the bulbous urethra. The study included 14 healthy m...

Conventional propagation of bulbous crops must be supplemented with micropropagation to satisfy the requirements of present-day horticulture with respect to fast production of disease-free, superior starting material. Adequate micropropagation protocols for bulbous crops are therefore a sine qua non. The successive steps in micropropagation of bulbous crops are reviewed: initiation, multiplicat...

BACKGROUND Osteogenesis Imperfecta (OI) is an heritable systemic disorder of connective tissue due to different sequence variants in genes affecting both the synthesis of type I collagen and osteoblast function. Dominant and recessive inheritance is recognized. Approximately 90% of the OI cases are due to mutations in COL1A1/A2 genes. We clinically and radiologically describes an adult male wit...

Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...