-
Survey of Ophthalmology 2004Dysmorphology is the field of medicine focusing on congenital developmental abnormalities due to exogenous teratogens, chromosomal anomalies, or to a defect in a single... (Review)
Review
Dysmorphology is the field of medicine focusing on congenital developmental abnormalities due to exogenous teratogens, chromosomal anomalies, or to a defect in a single gene. Numerous syndromes have been reported and a growing number of genes or chromosomal anomalies are identified. The clinical observation of the face remains an essential part of the clinical evaluation of the patients. The orbital region, as other regions of the face, should be systematically evaluated. Orbital malformations can be isolated or part of a syndrome. In the diagnostic process, the orbital anomaly can be classified as a major feature (essential for the diagnosis), a moderate feature (important but not essential for the diagnosis), or a minor feature (contributing weakly to the diagnosis). The diagnoses of the main orbital anomalies in dysmorphology are reviewed and illustrated with relevant examples of syndromes that are presented as well as the usual landmarks used in clinical practice. Abnormal position of the eyes in syndromes such as hypertelorism, hypotelorism, primary or secondary telecanthus, asymmetry, and proptosis are discussed. Eyelid anomalies, such as cryptophthalmos, ablepharon, blepharophimosis, euryblepharon, or anomalies at the level of the eyelashes and eyebrows are described.
Topics: Craniofacial Abnormalities; Eye Abnormalities; Eyelids; Humans; Hypertelorism; Orbit
PubMed: 15530943
DOI: 10.1016/j.survophthal.2004.08.001 -
American Journal of Medical Genetics.... May 2004Ablepharon-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...
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.
Topics: Ear; Eye Abnormalities; Face; Facies; Female; Hand Deformities, Congenital; Humans; Humerus; Macrostomia; Middle Aged; Radiography; Syndrome
PubMed: 15103726
DOI: 10.1002/ajmg.a.20658 -
Genetic Counseling (Geneva, Switzerland) 2002
Topics: Abnormalities, Multiple; Disorders of Sex Development; Eyelids; Female; Humans; Infant; Intellectual Disability; Metacarpophalangeal Joint; Musculoskeletal Abnormalities; Syndrome
PubMed: 12017240
DOI: No ID Found -
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 -
American Journal of Medical Genetics Oct 2001
Topics: Abnormalities, Multiple; Central Nervous System; Chromosome Banding; Developmental Disabilities; Diagnosis, Differential; Epilepsy; Eyelids; Follow-Up Studies; Humans; Infant; Karyotyping; Macrostomia; Male
PubMed: 11746001
DOI: 10.1002/ajmg.1540 -
Genetic Counseling (Geneva, Switzerland) 2001
Topics: Abnormalities, Multiple; Adult; Eyelids; Facies; Female; Humans; Vagina
PubMed: 11332973
DOI: No ID Found -
Ophthalmic Surgery and Lasers 2000Microblepharon is a rare congenital anomaly manifested by a vertical shortening of the eyelids. We describe the clinical presentation and surgical outcome of a patient...
Microblepharon is a rare congenital anomaly manifested by a vertical shortening of the eyelids. We describe the clinical presentation and surgical outcome of a patient with trisomy 21 and microblepharon. Microblepharon occurs in varying degrees and must be distinguished from ablepharon and cryptophthalmos. A variety of surgical options are available depending upon the degree of lid involvement.
Topics: Diagnosis, Differential; Eyelid Diseases; Eyelids; Female; Humans; Infant; Plastic Surgery Procedures; Skin Transplantation; Trisomy
PubMed: 11095131
DOI: No ID Found -
American Journal of Medical Genetics Oct 2000Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous...
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.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Eyelids; Female; Genes, Dominant; Genitalia, Female; Growth Disorders; Hair; Humans; Infant; Infant, Newborn; Macrostomia; Male; Nuclear Family; Pregnancy; Syndrome
PubMed: 11038439
DOI: 10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s -
Archives of Ophthalmology (Chicago,... Mar 2000
Topics: Abnormalities, Multiple; Ear; Eye Abnormalities; Eyelashes; Eyelids; Female; Genitalia, Female; Hernia, Umbilical; Humans; Infant, Newborn; Macrostomia; Skin Abnormalities; Syndrome
PubMed: 10721975
DOI: No ID Found -
American Journal of Medical Genetics Jun 1998We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described...
We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve the same structure of the skin and adnexa. We hypothesize that they may derive from a defective regulation of the same gene.
Topics: Abnormalities, Multiple; Breast; Child; Face; Female; Humans; Language Development Disorders; Psychomotor Disorders; Syndrome; Verbal Learning
PubMed: 9674915
DOI: No ID Found