Introduction

Cleft patients with Holoprosencephalus (HPE) provide a wide clinical spectrum. Besides an accessory agenesis of facial tissue structures, spanning from columella, up to the entire prolabium-premaxilla complex, with or without brain deformities, with various functional deficits may prevail or present with a more standard cleft as a HPE-like syndrome. Making a precise diagnosis, just like choosing the most appropriate treatment plan is often quite challenging.

Material and Methods

A data-analysis, comprising 97 HPE-cleft and HPE-like cleft syndromes of a total of 5021 cleft patients of the Cleft Clinic, Life-Wilgers Hospital and University of Pretoria, in Pretoria was reviewed. It yielded pertinent diagnostic criteria and collected information of pregnancy history, brain development, survival rate, the initial perioperative management and course of postsurgical midfacial growth. This provided a comprehensive management syllabus for cleft patients who are affected by HPE. According to their clinical features, the patients were allocated to one of the following four HPE-cleft-subdivisions and HPE-like syndromes.

Results

The different types of HPE-clefts were classified and each HPE-cleft subdivision requires not only a different surgical, but also perioperative feeding, epilepsy and reconstructive management approach, very much according to brain development and survival rate.

Discussion

According to diagnostic criteria HPE-cleft cases were subdivided into: Columella-nasal complex agenesis (Ag-Colum); Prolabium-premaxilla-columella complex agenesis in cleft lip-alveolus deformities (Ag-CLA); Prolabium-premaxilla-columella complex agenesis in complete palate clefts (Ag-CLAP): and “standard” CLA /CLAP (as HPE-Std-cleft or HPE-like syndrome) with atrophic premaxilla with single central incisors. Valuable information about incidence and mortality rates, frequent co-morbidities, brain development and midfacial growth were retrieved among multi-ethnic patients. Further it provides guidelines for the reconstructive management of HPE-cleft patients with various degrees of structural midfacial agenesis and comparison to the standard Pretoria cleft-protocol. Epigenetic factors possibly being related to the occurrence of HPE in cleft lip and palate patients were addressed. This research yielded two exceptional and unexpected outcomes related to growth in the midface complex and the initial possible influence of a viral infection (More detailed information is published: Ann Maxillofac Surg. 2019;9:140-51).