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American Journal of Medical Genetics.... Aug 2016Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a... (Meta-Analysis)
Meta-Analysis Review
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.
Topics: Abnormalities, Multiple; Eye Abnormalities; Eyelid Diseases; Facies; Genetic Association Studies; Genotype; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Mutation; Phenotype; Skin Abnormalities; Twist-Related Protein 2
PubMed: 27196381
DOI: 10.1002/ajmg.a.37757 -
The British Journal of Ophthalmology May 1991The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic...
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.
Topics: Abnormalities, Multiple; Eyebrows; Eyelashes; Eyelids; Humans; Infant, Newborn; Macrostomia; Male; Surgical Flaps; Syndrome; Vision Disorders
PubMed: 2036354
DOI: 10.1136/bjo.75.5.317 -
American Journal of Medical Genetics Jan 2002We 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...
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.
Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Macrostomia; Male; Syndrome
PubMed: 11807864
DOI: 10.1002/ajmg.10123 -
Cornea Jul 2018To report a case of ablepharon-macrostomia syndrome and surgical treatment options. (Review)
Review
PURPOSE
To report a case of ablepharon-macrostomia syndrome and surgical treatment options.
METHODS
Case report and literature review.
RESULTS
A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth. The eyes were closed using masquerade flaps for 6 weeks. In a secondary procedure at the adjusted age of 3 weeks, the flaps were partially divided, and visual input and development were successfully achieved, while maintaining corneal protection.
CONCLUSIONS
We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macrostomia syndrome, surgically treated with masquerade flaps to preserve corneal health and allow bilateral visual input.
Topics: Abnormalities, Multiple; Cornea; Eye Abnormalities; Eyelids; Humans; Infant, Newborn; Macrostomia; Male; Ophthalmologic Surgical Procedures; Surgical Flaps; Treatment Outcome
PubMed: 29538102
DOI: 10.1097/ICO.0000000000001563 -
The Journal of Craniofacial Surgery May 2021Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism,...
Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism, macrostomia, dysplastic ears, sparse body hair, and ambiguous genitalia. The most significant phenotypic presentation is rudimentary eyelids resulting in exposure keratopathy, corneal abrasions, and potential blindness. Numerous methods including primary full thickness skin grafting, conjunctival sutures followed by full thickness skin grafting, and a combination of skin grafting and local flaps have been described for definitive eyelid reconstruction in these patients. The authors report the first case of autologous rib cartilage grafting and fat grafting for lower eyelid reconstruction in a patient with AMS.
Topics: Abnormalities, Multiple; Adipose Tissue; Costal Cartilage; Eye Abnormalities; Humans; Macrostomia; Ribs
PubMed: 33055564
DOI: 10.1097/SCS.0000000000007187 -
American Journal of Ophthalmology May 1985The 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...
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.
Topics: Cornea; Eyelids; Female; Humans; Infant, Newborn; Macrostomia
PubMed: 4003491
DOI: 10.1016/s0002-9394(14)77956-5 -
American Journal of Medical Genetics.... Dec 2018The TWIST family is a group of highly conserved basic helix-loop-helix transcription factors. In humans, TWIST1 haploinsufficiency causes Saethre-Chotzen syndrome, which...
The TWIST family is a group of highly conserved basic helix-loop-helix transcription factors. In humans, TWIST1 haploinsufficiency causes Saethre-Chotzen syndrome, which is characterized by craniosynostosis. Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome, respectively. Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth. Existence of phenotypic overlap between Saethre-Chotzen syndrome and Sweeney-Cox syndrome remains unknown. Herein, we document a male infant with the distinctive facial features of ablepharon, hypertelorism, cheek pads adjacent to the corners of the mouth, and bilateral coronal suture craniosynostosis who had a de novo heterozygous mutation in the basic domain of TWIST1, that is, c.351C>G p.Glu117Asp. The pathogenicity of this variant was supported by in silico and in vivo evidence. Our review showed that Sweeney-Cox syndrome appears to share many characteristics with Barber-Say syndrome and ablepharon-macrostomia syndrome except for craniosynostosis, which is a cardinal feature of Saethre-Chotzen syndrome. An amino acid substitution from Glu117 to Asp, both of which are the sole members of negatively charged amino acids, resulted in a prototypic Sweeney-Cox syndrome phenotype. This suggests that any amino acid substitutions at Glu117 would likely lead to the Sweeney-Cox syndrome phenotype or lethality. The present observation suggests that a localized TWIST1 basic domain substitution, that is, p.Glu117Asp, in TWIST1 may exert a mild antimorphic effect similar to that of haploinsufficiency, leading to craniosynostosis and ablepharon.
Topics: Alleles; Amino Acid Substitution; Craniosynostoses; Eye Abnormalities; Facies; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Infant, Newborn; Male; Nuclear Proteins; Protein Domains; Syndrome; Tomography, Spiral Computed; Twist-Related Protein 1
PubMed: 30450715
DOI: 10.1002/ajmg.a.40525 -
The Nigerian Postgraduate Medical... 2021Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital...
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.
Topics: Abnormalities, Multiple; Eye Abnormalities; Humans; Macrostomia; Male; Nigeria
PubMed: 34850759
DOI: 10.4103/npmj.npmj_318_20 -
American Journal of Medical Genetics.... Dec 2011Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral...
Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported.
Topics: Abnormalities, Multiple; Eye Abnormalities; Facies; Female; Humans; Infant, Newborn; Macrostomia; Phenotype
PubMed: 22002929
DOI: 10.1002/ajmg.a.34287 -
Clinical & Experimental Optometry May 2021
Topics: Abnormalities, Multiple; Eye Abnormalities; Humans; Macrostomia
PubMed: 33689605
DOI: 10.1080/08164622.2021.1878839