Rare Disease: Lobar Holoprosencephaly with a Median Cleft Lip—Case Report

Abstract

Holoprosencephaly is a complex malformation of the brain associated with the median facial defects. Variability of the clinical picture is the characteristic of this anomaly. In most cases, the degree of severity of the facial anomaly correlates with the degree of damage to the brain. This article aims to present a rare case of child with a milder form of brain anomaly combined with a severe form of facial anomaly. The article also presents the application of a feeding stimulator to improve the child's quality of life. The anomaly was diagnosed by postnatal sonography of the brain, magnetic resonance imaging of the endocranium, and three-dimensional computed tomography of the craniofacial skeleton.

Presurgical Orthodontic Therapy in a Newborn With Median Cleft Lip Accompanied by Holoprosencephaly and Agenesis of the Premaxilla

“…Therefore, there is no standardized protocol for the management of varying degrees of severity of craniofacial malformations. The treatment is multidisciplinary, and the need to improve the quality of life is more than necessary [13]. The surgery of facial malformations is one of the most prevalent problems, largely due to the lack of bone and soft tissue of a large part of the face.…”

The Application of Stimulator in the Treatment of Cleft Lip and Palate in Goldenhar Syndrome, Trisomy 13 and Lobar Holoprosencephaly With a Median Cleft Lip

“…3 The face appearance of a newborn with Lobar holoprosencephaly with a median cleft lip. Note the lack of crista galli, the nasal bone, the complete premaxilla, and nasal septum [8].…”

“…Variability of the clinical picture is the characteristic of this anomaly. In most cases, the degree of severity of the facial anomaly correlates with degree of damage to the brain [8] Facial anomalies are divided into five groups: cyclopia, ethmocephaly, cebocephaly, premaxillary agenesis with median cleft lip, and other less severe manifestations [9]. Premaxillary agenesis with median cleft lip is a complete median lip cleft, and when associated with hypotelorism, it is the fourth type of facial anomaly within HPC.…”