Lobar Holoprosencephaly with a Median Cleft: Case Report

Abstract

Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months' follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.

Interhypothalamic Adhesion: A Series of 13 Cases

“…1 Additional manifestations of holoprosencephaly may include ocular anomalies, cleft lip, cleft palate, absent septum pellucidum, falx cerebri hypoplasia, under-rotation of the hippocampi, and/or corpus callosum dysgenesis. [8][9][10][11] Hippocampal abnormalities were present in 9 of 13 patients, and hypoplasia of the falx cerebri was present in 2 patients. Symmetric hypoplasia of the optic bulbs was present in 2 patients.…”

Presurgical naso-alveolar molding paired with cheiloplasty to treat median cleft lip deformity in holoprosencephaly

“…As limited skin and soft tissue volume was available for cheiloplasty, it was quite challenging to reconstruct the lip and nose into a fine structure that forms the cupid bow, philtrum ridge, philtrum dimple, or labial tubercle. The simplest cheiloplasty should involve a straight approximation of the lateral upper lip [2][3][4]. But if a straight scar on the upper lip center is present, the shape of the philtrum structure cannot be determined.…”

“…In some cases, the primary palate and the columella are completely missing, making reconstruction extremely difficult. Various reconstruction methods have been reported based on 'straight-line closure of the upper lip' [2][3][4]. Herein, we report a case of holoprosencephaly with median cleft lip in an infant girl who underwent cheiloplasty and presurgical naso-alveolar molding (PNAM).…”

Alobar holoprosencephaly: A case report

“…In the literature, several studies conducted by Thakur et al (21)(22)(23)(24)(25)(26). In the current study, ambiguous genitalia was a significant manifestation of HPE in the patient, which has not been reported by previous studies in this regard.…”