Simpson–Golabi–Behmel Syndrome
Dongyou Liu in Handbook of Tumor Syndromes, 2020
Distinctive facies include (i) macrocephaly (70% of cases); (ii) ocular hypertelorism, epicanthal folds, downslanting palpebral fissures, strabismus or esotropia, cataracts, coloboma of the optic disc, ocular nerve palsies; (iii) redundant, furrowed skin over the glabella; (iv) wide nasal bridge and anteverted nares in infants, broad nose in older individuals; (v) macrostomia (abnormally large mouth); (vi) macroglossia (abnormally large tongue); (vii) dental malocclusion; (viii) midline groove in the lower lip and/or deep furrow in the middle of the tongue; (ix) cleft lip and/or submucous cleft palate (with a bifid uvula, 13%), high and narrow palate; (x) micrognathia (small mandible) in neonates, macrognathia in older individuals; (xi) preauricular tags, fistulas, ear lobule creases, helical dimples [2].
Anatomy and Embryology of the Mouth and Dentition
John C Watkinson, Raymond W Clarke, Terry M Jones, Vinidh Paleri, Nicholas White, Tim Woolford in Head & Neck Surgery Plastic Surgery, 2018
In the 6-week-old embryo, the two mandibular processes fuse in the midline to form the tissues of the lower jaw. Rarely, persistence of a midline groove in this region produces a mandibular cleft. The mandibular and maxillary processes meet at the angle of the mouth (labial commissure), thus defining its outline. Disturbances in this development may give rise to macrostomia (enlarged oral orifice) or microstomia (small oral orifice), or rarely to an astomia (lack of an oral orifice). From the corners of the mouth, the maxillary processes grow inwards beneath the lateral nasal processes and towards the medial nasal processes of the upper lip (Figure 41.20). An appreciation of this arrangement helps explain the occurrence of a unilateral or bilateral cleft lip (when the medial nasal and maxillary processes fail to merge successfully) and a median cleft (when the two median nasal processes fail to merge). The severity of a cleft may vary from a barely imperceptible groove to a complete cleft. Between the merging maxillary and the lateral nasal process lies the naso-optic furrow. From each furrow a solid ectodermal rod of cells sinks below the surface and canalizes to form the nasolacrimal duct. Persistence of the naso-optic furrow may produce an oblique facial cleft.
Clefts and craniofacial
Tor Wo Chiu in Stone’s Plastic Surgery Facts, 2018
It affects males and females equally, with an incidence of 1 in 25,000–50,000. TCS is otherwise known as mandibulofacial dysostosis; there is bilateral failure of the first arch neural crest. The deformities in TCS are said to be non-progressive with age, and some represent a consortium of facial clefts 6, 7, 8 centred around the zygoma. There is significant variation in severity. Some unkindly describe the facies as a ‘sad fish’ – characteristic features include the following: Mid-face hypoplasia is a key feature leading to the typical mid-facial convexity – zygomatic a-/hypoplasia with absent arches, the inferolateral orbital wall deficient with downward slant of the supra-orbital ridge, the maxilla is narrowed. Hypoplastic temporalis muscle.Mandibular hypoplasia – micrognathia and anterior open bite (type II), long chin.Airway compromise at birth/sleep apnoea is not uncommon.Defects of lower eyelid – loss of medial lashes, coloboma (6 cleft), antimongoloid slant due to lack of support from the hypoplastic lateral orbital wall (8 cleft).Hypertelorism.Macrostomia (7 cleft).Abnormalities of the external, middle and inner ear – low set ears/microtia/skin tags; >95% have moderate conductive hearing loss due to stenosis of the EAM or ankylosis of the inner ear ossicles, and sensorineural hearing impairment.Broad prominent nasal bridge, choanal atresia or stenosis.Cleft palate (CP) or high arched palate.Long sideburns.
A case of ablepharon macrostomia syndrome requiring multidisciplinary care
Published in Clinical and Experimental Optometry, 2021
Denise Alexopoulos, Tracy L Matchinski
This patient was new to the clinic and during the first paediatric primary care examination efforts concentrated on ocular health. Due to the complexity of the case and poor cooperation of the child, limited time was available to measure visual abilities (Table 1). A congenital horizontal nystagmus was observed in both eyes. Gross observation of the anterior segment revealed bilateral partial tarsorrhaphies and corneal opacification. Tactile palpation was soft and equal in both eyes. Macrostomia and dental abnormalities were present. Using a multidisciplinary approach to management, the primary author referred the patient to two additional areas of expertise – a paediatric low vision rehabilitation (LVR) specialist and a paediatric ophthalmologist.
Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure
Published in Journal of Plastic Surgery and Hand Surgery, 2019
Pan Zhou, Lin Qiu, Yan Liu, Tianwu Li, Xionghui Ding
We collected data from 27 patients who were treated in the Burn and Plastic Surgery Department of Children’s Hospital of Chongqing Medical University between 2008 and 2017. The youngest patients’ age at surgery was 84 days, and the oldest was 4.5 years (mean, 6.7 months). The patient cohort consisted of 10 girls and 17 boys, including three with a minor commissural cleft for unilateral clefts ending medial to the anterior border of the masseter muscle and six with major commissural clefts ending lateral to the masseter muscle [2] and 17 cases manifesting between them. One patient had a bilateral macrostomia. Fourteen patients manifested a left-side anomaly, while 12 patients had a right-side anomaly. Twenty patients in the cohort had an ear malformation such as accessory ear, and 21 had a hemifacial microsomia.