A single nostril associated with alobar holoprosencephaly is a rare congenital lesion. This paper reports two female term neonates with holoprosencephaly. The first neonate asphyxiated at birth had a single nostril, hypotelorism, posterior cleft palate, inferonasal coloboma of the iris and disc and persistent tunica vasculosa lentis. The other neonate had cleft lip and palate and recurrent convulsions. Both neonates had gross motor and developmental delay. Cranial sonography and CT scan showed features consistent with alobar holoprosencephaly. Karyotyping for the first neonate and her family members was normal. Both of them were treated conservatively and supervised.
A case of the Hutchinson-Gilford progeria syndrome (HGPS) in Malaysia is described. A brief discussion of this rare condition and its differential diagnosis follows.
Congenital arhinia is one of the rare craniofacial malformation that may cause severe respiratory distress at birth due to upper airway obstruction. Our patient, whose abnormalities were only detected after delivery in our centre, is the first reported case of congenital arhinia in Malaysia. Contrary to popular belief that neonates are obligate nasal breather, our patient adapted well to breathing through mouth before an elective tracheostomy was performed on day four of life.
Bilateral cleft lip/cleft palate is associated with nasal deformities typified by a short columella. The presurgical nasoalveolar molding (NAM) therapy approach includes reduction of the size of the intraoral alveolar cleft as well as positioning of the surrounding deformed soft tissues and cartilages. In a bilateral cleft patient, NAM, along with columellar elongation, eliminates the need for columellar lengthening surgery. Thus the frequent surgical intervention to achieve the desired esthetic results can be avoided. This article proposes a modified activation technique of the nasal stent for a NAM appliance for columellar lengthening in bilateral cleft lip/palate patients. The design highlights relining of the columellar portion of the nasal stent and the wire-bending of the nasal stent to achieve desirable results within the limited span of plasticity of the nasal cartilages. With this technique the vertical taping of the premaxilla to the oral plate can be avoided.
A method of open-tip rhinoplasty using nostril and columella rim incisions at the time of unilateral cleft lip repair is described. This preliminary report details experience gained using this technique in the Malaysian centre of Alor Setar following its introduction in September, 1991.
47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.