Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa.

Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital abnormalities. Very few cases have been reported since the first case report in 1977. We report the case of a 6-day-old male delivered to unrelated parents. He was dysmorphic with absent eyelids, eyelashes and eyebrows, large fish-shaped mouth, hyperpigmented thick anterior abdominal wall, absent prepuce amongst other features. Skull X-ray showed poorly developed zygomatic bones. The patient is being managed as a case of AMS in a multidisciplinary fashion. There is no agreement on the mode of inheritance, but authors have suggested autosomal recessive, autosomal dominant, sporadic and familial occurrences. The absence of the prepuce and hyperpigmentation of the anterior abdominal wall as was seen in our patient has not been reported. More case reports are needed to delineate the spectrum of clinical features in AMS.

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

Ablepharon-macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients. Additional anomalies include dry skin, growth retardation, hearing loss, camptodactyly, hypertelorism, absent zygomatic arches, and umbilical abnormalities. We present the second familial case of ablepharon-macrostomia syndrome in a newborn female and her 22-year-old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder. These cases likely represent the 16th and 17th reported cases of AMS and the first case suspected on prenatal ultrasound. Additionally, the child shows more prominent features of the disorder when compared to her father documenting variable expression and possible anticipation.

A rare bilateral Tessier no. 6 and 7 clefts.

The authors describe a patient with bilateral Tessier no. 6 and no. 7 clefts. The case consists of macrostomia combined with maxillary, zygomatico-orbito-temporal deformities, dental anomalies and mandibular retrusion. In addition, the cleft is located bilaterally in the maxillary arch with a double deciduous posterior dentition. This is rare. The clinical and radiological features are reported and the treatment plans are discussed.

Palatoplasty for bilateral oblique cleft of the soft palate accompanied by Tessier number 5·7 cleft.

Craniofacial cleft is a rare congenital deformity in which there are fissures of a facial structure classified by Tessier. A palatoplasty to reconstruct the muscle sling and to close the cleft of the velum was performed. Acceptable postoperative appearance of the velum was seen after 6 months. Although further follow-up is still needed for velopharyngeal function, this case report provides details of the anatomical deformities and our surgical approach to this atypical bilateral cleft palate.

Tessier number 7 cleft with oblique clefts of bilateral soft palates and rare symmetric structure of zygomatic arch.

Craniofacial clefts are very rare congenital deformities. Tessier's numbering classification is a simple system universally accepted. Excluding cleft lip and palate, the transverse or lateral cleft (Tessier number 7) is the most common type of craniofacial cleft, manifesting macrostomia without skeletal abnormalities. We present a case of Tessier number 7 cleft with oblique clefting of the soft palate bilaterally and rare symmetric structures of the zygomatic arch.

Ultrasound prenatal diagnosis of a lateral facial cleft (Tessier number 7).

Lateral facial clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral facial cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation.

Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome.

A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.