CA Stevens, LA Sargent - American journal of medical genetics, 2002 - interscience.wiley.com 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, ... Cited by 11 - Related articles - BL Direct - All 3 versions
JE Pellegrino, RE Schnur, L Boghosian-Sell, … - Human genetics, 1996 - Springer Abstract The ablepharon-macrostomia (AMS) and Bar- ber-Say syndromes (BSS) are
rare disorders characterized by absence of the eyelids or ectropion,
macrostomia, am- biguous genitalia, abnormal ears, rudimentary nipples, and ... Cited by 11 - Related articles - BL Direct - All 4 versions
VEF Ferraz, DG Melo, SE Hansing, AAV Cruz, … - American journal of medical genetics, 2000 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 9 - Related articles - BL Direct - All 3 versions
L Mazzanti, R Bergamaschi, I Neri, A Perri, A … - American journal of medical genetics, 1998 - interscience.wiley.com 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 ... Cited by 9 - Related articles - BL Direct - All 3 versions
JR Guercio, LJ Martyn - Otolaryngologic Clinics of North America, 2007 - Elsevier Congenital malformations may affect any part of the eye and the ocular adnexa.
Developmental defects may occur in isolation or as part of a larger systemic
malformation syndrome. Many malformations can severely impair vision, ... Cited by 8 - Related articles - All 11 versions
F Brancati, R Mingarelli, A Sarkozy, B … - American Journal of Medical Genetics, 2004 - interscience.wiley.com 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. ... Cited by 5 - Related articles - BL Direct - All 3 versions
TJ Sullivan, MP Clarke, DS Rootman, RC … - Australian and New Zealand journal of ophthalmology, 1992 - ncbi.nlm.nih.gov Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid
formation that can occur alone or in combination with multiple congenital
anomalies as part of the Fraser syndrome. We present a case of bilateral ... Cited by 4 - Related articles
AAV Cruz, CA Souza, VEF Ferraz, CAC … - Archives of Ophthalmology, 2000 - Am Med Assoc The patient, a girl, was born at term by cesarean delivery to a 22-year-old
mother and nonconsanguineous 26-year-old father. At birth several anomalies were
noted: severely shortened upper and lower eyelids without eyelashes, ... Cited by 3 - Related articles - BL Direct - All 4 versions
DJ Amor, R Savarirayan - American journal of medical genetics, 2001 - cat.inist.fr Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.
David J AMOR, Ravi SAVARIRAYAN American journal of medical ... Cited by 4 - Related articles - BL Direct - All 3 versions
