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Total: 8 |
|
| PMID (PMCID) | ||
|---|---|---|
|
30984591 |
OTHER | |
| Barber Say Syndrome (A New Case Report). | ||
|
Rezaei M, Zamani S, Haghighinejad H. Indian Dermatol Online J. 2019;10(2):158-161. |
||
| This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. | ||
|
30984591 |
OTHER | |
| Barber Say Syndrome (A New Case Report). | ||
|
Rezaei M, Zamani S, Haghighinejad H. Indian Dermatol Online J. 2019;10(2):158-161. |
||
| Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. | ||
|
10649800 |
FEMALE | |
| Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. | ||
|
Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. Clin Dysmorphol. 2000;9(1):59-60. |
||
| We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. | ||
|
9674915 |
FEMALE | Child |
| Barber-Say Syndrome: report of a new case. | ||
|
Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. Am J Med Genet. 1998;78(2):188-91. |
||
| We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. | ||
|
8368246 |
FEMALE | Infant, Newborn |
| Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. | ||
|
Martinez Santana S, Perez Alvarez F, Frias JL, Martinez-Frias ML. Am J Med Genet. 1993;47(1):20-3. |
||
| 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. | ||
|
8368246 |
FEMALE | Infant, Newborn |
| Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. | ||
|
Martinez Santana S, Perez Alvarez F, Frias JL, Martinez-Frias ML. Am J Med Genet. 1993;47(1):20-3. |
||
| Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. | ||
|
1867254 |
MALE | Child |
| Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. | ||
|
David A, Gordeeff A, Badoual J, Delaire J. Am J Med Genet. 1991;39(1):112-5. |
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| Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. | ||
|
1867254 |
MALE | Child |
| Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. | ||
|
David A, Gordeeff A, Badoual J, Delaire J. Am J Med Genet. 1991;39(1):112-5. |
||
| We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. | ||