Cyclopia, Arhinia and Hermaphroditism Report in a Saanen Kid

Congenital partial arhinia: a case report

Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or...

Congenital arhinia: case report of a rare congenital anomaly.

Congenital absence of the nose or arhinia is a rare defect of embryogenesis often associated with other anomalies. Arhinia is a life-threatening condition that requires a highly skilled neonatal resuscitation team in the delivery room. The associated anomalies often have a significant effect on the immediate as well as long-term outcome of the neonate. This report presents a case of congenital ...

Hypogonadotropic hypogonadism presenting with arhinia: a case report

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...

Cyclopia: A Rare Condition with Unusual Presentation – A Case Report

INTRODUCTION Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infa...

Cyclopia and sirenomelia in a liveborn infant.