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Human Genetics Apr 1996The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous...
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.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 18; Cutis Laxa; Ear; Eyelids; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Mouth Abnormalities; Nipples; Phenotype; Skin Diseases; Syndrome
PubMed: 8834257
DOI: 10.1007/BF02267081 -
Ophthalmic Plastic and Reconstructive... Dec 1995The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo,...
The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids. Only four cases have been described so far. In these cases the nature of the eyelid anomalies has not been clearly defined. We report one more case showing that the condition is better described as a severe microblepharon because only the anterior lamella of the eyelids is shortened. The literature about this condition is reviewed, and oculoplastic treatment is discussed.
Topics: Adolescent; Adult; Eyebrows; Eyelashes; Eyelid Diseases; Eyelids; Female; Humans; Infant, Newborn; Macrostomia; Male; Surgery, Plastic; Surgical Flaps; Syndrome
PubMed: 8746822
DOI: 10.1097/00002341-199512000-00012 -
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 -
Teratology Mar 1989Male CD-1 mice were exposed to Tordon 202c (a picloram and 2,4-D combination herbicide) in the drinking water at concentrations of 0.21, 0.42, and 0.84% solutions for 60...
Male CD-1 mice were exposed to Tordon 202c (a picloram and 2,4-D combination herbicide) in the drinking water at concentrations of 0.21, 0.42, and 0.84% solutions for 60 days prior to mating with untreated females. Subsequently there was no exposure to Tordon 202c during gestation. Fetal weight and crown-rump length were reduced in the highest dosage group. The incidence of malformed fetuses (e.g., ablepharon, cleft palate, and unilateral agenesis of the testes) was increased in the middle dosage group while the incidence of fetuses with variants was increased in the lowest (e.g., an extra pair of ribs) and the highest dosage groups (e.g., incomplete ossification of the skeleton). The frequency of pregnancy failure was increased in the middle dosage group. Indices of paternal toxicity included increased lethality and decreased water consumption in the highest dosage group and increased relative spleen weights in the lowest and middle dosage groups. The results suggest paternally mediated reproductive toxicity.
Topics: 2,4-Dichlorophenoxyacetic Acid; Animals; Embryonic and Fetal Development; Female; Herbicides; Hydrazines; Male; Mice; Picloram; Picolinic Acids; Pregnancy; Teratogens
PubMed: 2727932
DOI: 10.1002/tera.1420390305 -
American Journal of Medical Genetics Oct 1988We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular... (Review)
Review
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.
Topics: Abnormalities, Multiple; Diagnosis, Differential; Eyelids; Humans; Hypertrichosis; Infant, Newborn; Macrostomia; Male; Psychomotor Disorders; Syndrome
PubMed: 3068987
DOI: 10.1002/ajmg.1320310207 -
British Journal of Plastic Surgery Jul 1988The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. It is characterised by bilateral absence or hypoplasia of lower eyelids, macrostomia and... (Review)
Review
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.
Topics: Abnormalities, Multiple; Child; Eyelids; Humans; Macrostomia; Male; Surgery, Plastic; Syndrome; Zygoma
PubMed: 3293678
DOI: 10.1016/0007-1226(88)90084-7 -
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 -
Journal of the All-India... Oct 1966
Topics: Cleft Palate; Eyelids; Humans; Infant, Newborn; Male
PubMed: 5982335
DOI: No ID Found -
The Indian Medical Gazette Mar 1904
PubMed: 29003962
DOI: No ID Found