Results 111 to 120 of about 12,560 (202)

Facial cleft syndrome-A case report

Indian Journal of Ophthalmology, 1990
A rare case of facio-orbital anamoly having dermolipoma with posterior extension, lid notch, ectropion, assymetric hypertelorism and lipoma of corpus callosum is presented. The classification of the facial cleft deformities and the surgical management is
Betharia S, Kumar Sushil
doaj  

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder. [PDF]

J Med Cases
Abdelhady E, Tobias JD.
europepmc   +1 more source

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous <i>GPC3</i> stopgain variant mimicking acromegaly. [PDF]

JCEM Case Rep
Rishabh RK, Gadde S, Acharya H, Bhat V, Delampady K, Hk G.   +5 more
europepmc   +1 more source

A Case of Pallister-Killian Syndrome in a Newborn. [PDF]

Case Rep Genet
Di Donato G, Cauzzo C, Cicioni P, Topazio T, Chiavaroli V, Volo CPB, Morizio E, Chiarelli F, Valerio SD.   +8 more
europepmc   +1 more source

Central Nervous System Abnormalities On Midline Facial Defects With Hypertelorism Detected By Magnetic Resonance Image And Computed Tomography.

, 2015
The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH ...
Gil-da-Silva-Lopes, Vera Lúcia, Giffoni, Silvio David Araújo   +1 more
core  

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome. [PDF]

Mol Cell Pediatr
Szumutku F, Lengyel A, Pinti É, Kun I, Németh K, Abonyi T, Gál F, Ryu SW, Song Y, Ujfalusi A, Kádár K, Jávorszky E, Tory K, Kis É, Goda V, Kriván G, Kovács ÁF, Haltrich I.   +17 more
europepmc   +1 more source

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review. [PDF]

Orphanet J Rare Dis
Lazarczyk E, Pilarska-Deltow M, Sowinska-Seidler A, Repczynska A, Drozniewska M, Jamsheer A, Zdrojewska A, Pasinska M, Haus O.   +8 more
europepmc   +1 more source

A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review. [PDF]

Genes (Basel)
Chauhan M, Rickels KL, Kurup SP, Bohnsack BL, Ing A, Drackley A, Goetsch Weisman A, Allegreti V, Yap K, Rathbun P, Skol A, McMullen P, Ralay Ranaivo H, Rossen JL.   +13 more
europepmc   +1 more source

Childhood Ayme-Gripp syndrome: A case report. [PDF]

J Int Med Res
Xu J, Song X, Jia W, Zou C.
europepmc   +1 more source

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature. [PDF]

Front Med (Lausanne)
Oelmeier K, Horváth J, Vogtmann R, Meyer-Wittkopf M, Möllers M, Schmitz R, Oberste KM, Willy D.   +7 more
europepmc   +1 more source