To cite: Magalhães M, Costa D, Brites A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211212 DESCRIPTION A 6-day-old newborn girl from an unremarkable pregnancy and vaginal delivery was observed for the first time by her primary care physician presenting facial asymmetry when crying. Physical and neurological examination showed facial asymmetry noted...

UNLABELLED Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial ...

INTRODUCTION The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known a...

Surgery to correct congenital conductive hearing loss affords an opportunity for the otologic surgeon to drastically alter the patient’s hearing environment and offer a normal level of hearing in lieu of a lifetime of hearing aids. Unfortunately, the spectrum of abnormalities encountered in the congenital middle ear is wide, and the surgeon must be prepared for a variety of tasks. Perhaps the m...

Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers s...

A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of ...

We describe the case ofa 2.5 kg weighing infant with Larsen syndrome that we used sugammadex for reversal of deep neuromuscular blockade. Sugammadex was superior to classical reversal agent neostigmine because of the effect on deep neuromuscular blockade and less side effects. Our patient had cervical instability, small for age and also entubation difficulty with facial anomaly. We discussed th...

48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties. Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and ret...

A narrow internal auditory canal (IAC) with duplication is a rare anomaly of the temporal bone. It is associated with congenital sensorineural hearing loss. Aplasia or hypoplasia of the vestibulocochlear nerve may cause the hearing loss. We present an unusual case of an isolated narrow IAC with duplication that was detected by a CT scan. In this case, the IAC was divided by a bony septum into a...