Results 71 to 80 of about 28,866 (195)

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

Prenatal Diagnosis, Volume 46, Issue 10, Page 1648-1654, September 2026.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann, Tanja Richter, Nevena Krstić, Markus Hoopmann, Karl Oliver Kagan, Lena‐Sophie Menig‐Benzig, Simone Olivieri, Olaf Riess, Andreas Dufke   +8 more
wiley   +1 more source

Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment

, 2021
A series of skeletal and dentoalveolar/occlusal criteria were proposed for choosing the treatment modality for the management of midface hypoplasia in cleft lip/palate patients, focusing on functional improvement, aesthetics, and minimizing the risk of ...
Roberto Pantoja, Uribe, Maria Francisca, María Francisca Uribe, Emilio Moreno, Valladares, Salvador, Salvador Valladares, Farina, Rodrigo, Rodrigo Fariña, Juan Pablo Alister, Arrue, Camila, Lolas, Jorge, Camila Arrué, Moreno, Emilio, Alister, Juan Pablo, Pantoja, Roberto, Jorge Lolas   +15 more
core   +1 more source

Management of post midface distraction occlusal discrepancy using temporary anchorage devices in a cleft patient

Indian Journal of Plastic Surgery, 2015
Open bite deformity following a successful midface advancement by distraction osteogenesis is a common complication. Temporary anchorage devices can be deployed during the distraction and post-distraction settling phases for restoring the occlusion even ...
N. K. Koteswara Prasad, Syed Altaf Hussain, Arun B. Chitharanjan, Jyotsna Murthy   +3 more
doaj   +1 more source

Advancement of the midface, from conventional Le Fort III osteotomy to Le Fort III distraction: review of the literature

, 2008
Since its introduction in about 1950, the Le Fort III (LF III) procedure has become a widely accepted treatment for correction of midface hypoplasia and related functional and esthetic problems. As long-term surgical experience grows and improvements are
Adrichem, Léon, L.N.A. van Adrichem, E.B. Wolvius, Nout, Erik, E. Nout, Wal, Karel, Cesteleyn, LLM, L.L.M. Cesteleyn, I.M.J. Mathijssen, Wolvius, Eppo, K.G.H. van der Wal, Mathijssen, Irene   +11 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement

, 2010
Almost 50% of patients with Apert, Crouzon or Pfeiffer syndrome develop obstructive sleep apnea (OSA), mainly due to midface hypoplasia. Midface advancement is often the treatment of choice, but the few papers on long-term outcome report mixed results ...
Nout, Erik, Joosten, Koen, Wolvius, Eppo, Bannink, Natalja, Hoeve, Hans, Mathijssen, Irene, E.B. Wolvius, N. Bannink, K.F.M. Joosten, E. Nout, I.M.J. Mathijssen, H.L.J. Hoeve   +11 more
core   +1 more source

Apert syndrome: A Case report [PDF]

, 2014
Apert syndrome or Acrocephalosyndactyly is a rare congenital disorder that affects the craniofacial structures and the limbs and is characterized by bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet.
Nahrel, Rakesh, Kosam, Ajay
core   +1 more source

Expert Treatment Considerations for Lower Face and Neck Rejuvenation

Dermatological Reviews, Volume 7, Issue 4, August 2026.
ABSTRACT Background The lower face and neck are essential to overall facial harmony and a balanced appearance. Although most nonsurgical treatments have focused on the upper and midface, a variety of minimally invasive options are now available for treating the lower face and neck that target different aesthetic concerns and provide welcome ...
Sabrina Fabi, John Fezza, Jeremy B. Green, Jean Carruthers, Nazanin Ashourian, Elena Dimitrijevic, Steven Yoelin   +6 more
wiley   +1 more source

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

, 1998
We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked ...
RENIERI A., VITELLI F., BRUTTINI M., BALLABIO A., CHERNISKI E. M, VITELLI F, KASHTAN C. E, BRUTTINI M, KASHTAN C. E., RENIERI A, POBER B. R., JONSSON J. J, JONSSON J. J., CHERNISKE E. M., PICCINI M, BALLABIO, ANDREA, GALLAGHER P. G, PICCINI M., GALLAGHER P. G.   +18 more
core   +1 more source

Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses – Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle)

Ultrasound International Open, 2016
Purpose: To scrutinize the validity of a novel angle (maxilla-mandible-nasion angle, MMN) as objective proof of midfacial hypoplasia in trisomy 21 fetuses.
J. Weichert, M. Gembicki, J. Ribbat-Idel, D. R. Hartge   +3 more
doaj   +1 more source