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At least 19 recordsLinked to original sources
PubMed2007

Bilateral macrostomia as an isolated pathology.

OBJECTIVE: Congenital macrostomia is a lateral orofacial cleft between the maxillary and mandibular components of the first branchial arch. Bilateral macrostomia is a poorly characterized malformation, with only 14 cases reported in the literature. The purpose of this study was to compare our experience with the world literature. METHOD: A retrospective analysis of 20 cases of bilateral congenital macrostomia was conducted; 6 cases were drawn from 2 maxillofacial surgery units and 14 cases from the world literature. Cases of bilateral congenital macrostomia were compared with cases of unilateral forms using a review of the literature post-1954. Among the six cases identified from the two maxillofacial surgery units, three were treated with linear sutures and three with Z-plasty. Subsequent aesthetic and functional results were analyzed. RESULTS: Compared to unilateral forms, bilateral macrostomia is more often isolated without ear or skin deformities. Moreover, there are a greater proportion of larger defects among cases with bilateral macrostomia when compared to unilateral macrostomia. Alimentation, phonation, and mouth opening were always normal. The two sides were always symmetric. Only one case presented with the complication of skin contractions during lip movement. CONCLUSION: The etiopathogenesis of bilateral macrostomia is unclear. Although over 50% of the reported cases of bilateral macrostomia are isolated, this condition presents a therapeutic challenge. In the case of bilateral forms, the surgeon must define the commissure position without a normal side. Repair thus requires extraoral landmarks and normal measurements.

Adult↗
PubMed1988

A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.

The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. It is characterised by bilateral absence or hypoplasia of lower eyelids, macrostomia and multiple other congenital anomalies. Three cases have been reported (McCarthy and West, 1977; Hornblass and Reifler, 1985). In addition to ablepharon and macrostomia, other anomalies common to all patients include auricular deformity, nasal alar deformity, absence of lanugo hair, dry, ichthyotic skin and ambiguous genitalia. A new feature of the syndrome is described--absence of the zygomatic arches. In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.

Abnormalities, Multiple↗
PubMed2000

New surgical technique for macrostomia repair with two triangular flaps.

Our new surgical procedure with two triangular flaps for macrostomia repair allows us to achieve all three therapeutic goals, including formation of symmetric lips and commissures of the mouth, reconstruction of the orbicularis muscle of mouth to restore labial function, and reconstruction of the commissure of the mouth with a natural looking contour. Furthermore, the position of the commissure of the mouth can be adjusted intraoperatively according to the extent of macrostomia. As reported here, our method provides very satisfactory clinical results and is relatively easy to perform. Thus, we believe that our method can serve as a standard for the surgical treatment of macrostomia.

Child, Preschool↗
PubMed2000

Ablepharon-macrostomia syndrome: first report of familial occurrence.

Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281-283, 2000.

Abnormalities, Multiple↗
PubMed2002

Ablepharon-macrostomia syndrome.

We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. Many have persistent visual problems, often related to early corneal exposure. Hearing loss, poor hair growth, finger contractures, and growth retardation were also chronic problems. Developmental impairment was present in two-thirds of patients but was usually mild. This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features.

Abnormalities, Multiple↗
PubMed1988

Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?

We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.

Abnormalities, Multiple↗
PubMed2004

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition.

Ear↗
PubMed1984

Bilateral macrostomia in one of monozygotic twins.

This report concerns a pair of monozygotic twins discordant for bilateral symmetrical macrostomia. Laterally placed, symmetrical notches in the vermilion borders of both upper and lower lips were apparent in the affected twin. Since the oral cavity walls develop by a differential growth and merging mechanism, this result suggests a mechanism of tissue breakdown as the cause of macrostomia. Furthermore, discordance in these monozygotic twins minimizes the importance of heredity in this malformation.

Cephalometry↗
PubMed2006

[Epidemiologic and clinical study of macrostomias. Report series of ten observations].

INTRODUCTION: Macrostomia or lateral cleft or commissural cleft or transverse cleft is a rare facial cleft in comparison with standard cleft lip and palate. METHOD: A retrospective study of 10 cases of congenital macrostomia is realised. For each case a retrospective study with epidemiologic and clinic features was realised. RESULTS AND DISCUSSION: From these clinical considerations, a new classification with direct surgical consequences is proposed.

Child, Preschool↗
PubMed1991

Ablepharon macrostomia syndrome.

The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss.

Abnormalities, Multiple↗
PubMed1994

Congenital macrostomia--transverse facial cleft.

Congenital macrostomia or transverse facial cleft is a rare congenital craniofacial anomaly. It is usually associated with deformities of other structures developed from the first and second branchial arches and is thought to be part of the manifestations of hemifacial microsomia, the second most common congenital craniofacial anomaly. There were several methods to repair this deformity. All the methods emphasize the importance of restoration of the integrity of cheek and lip muscles. The role of vermilion flap and the size and direction of skin Z-plasty remained controversial. A retrospective review on the 16 congenital macrostomia patients repaired in this hospital by 4 different surgeons with 5 different methods was made. The symmetry of lip, commissural shape and scar quality were evaluated among different methods. It was felt that accurate positioning of the oral commissure and reconstruction of a functional oral musculature were quite important to a good result. The skin Z-plasty could lengthen the deficient transverse distance of the cheek tissue and prevent later scar contracture. But a Z-plasty needed careful design and good postoperative care to minimize visible scar. A vermilion flap across the commissure could also prevent the lateral migration of the commissure from a linear scar contracture. The flap also needed careful design to give a better commissural shape.

Child↗
PubMed1996

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin. Patients with Barber-Say syndrome also have hypertrichosis. We present a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome. We review AMS and BSS as compared with our patient, and recognize cutis laxa as a feature shared by all. We propose that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.

Abnormalities, Multiple↗
PubMed1993

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].

Abnormalities, Multiple↗
PubMed2007

Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of congenital abnormalities, specifically craniofacial anomalies. While recent research has led to the identification of the genes FRAS1 and FREM2 as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS-like and Fraser phenotypes in a Brazilian family. Both affected sibs were homozygous for a novel splice site mutation in the FRAS1 gene. Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS. We conclude that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype-phenotype correlation. However, the molecular basis of "true" AMS which has been reported as a sporadic disorder in all cases but one, and so far with no relation to FS, is probably different and still needs to be further investigated.

Abnormalities, Multiple↗
PubMedDate not supplied

Simple line closure for macrostomia repair.

In repair of macrostomia, many authors have used a Z-plasty to prevent postoperative scar contracture. We found that the Z-plasty scar may be conspicuous when the patients open their mouths. Here we present a method of nearly straight line closure resulting in an inconspicuous scar even when the patients move their mouths.

Female↗
PubMed1985

Ablepharon macrostomia syndrome.

The ablepharon macrostomia syndrome is a severe congenital condition that includes total absence of the upper and lower eyelids, failure of lip fusion that results in an enlarged, fish-like mouth, abnormally shaped ears and nose, absence of lanugo, ventral hernia, and ambiguous genitalia. In one such patient we were able to reconstruct the eyelids in a three-stage procedure. Redundant skin from the retroauricular area was used to create full-thickness grafts. The child later underwent successful mouth reconstruction. Although developmentally delayed, the child was eventually able to sit unassisted, to grasp objects, and to follow light with some fixation. Nystagmus was severe. The retina was attached in one eye and detached in the other. Corneal opacities present initially improved in one eye, allowing a view of the pupil and a normal anterior chamber.

Cornea↗