Results 101 to 110 of about 12,301 (210)

Triad of temporomandibular joint ankylosis, micrognathia, and obstructive sleep apnoea: a systematic review of surgical management

Complex functional issues arising from temporomandibular joint (TMJ) ankylosis are associated with abnormal mandibular growth secondary to the condylar-glenoid fossa and its surrounding structures. These include severe limited mouth opening, micrognathia,
Yew, Tan Fo, Hariri, Firdaus, Sng, Timothy Jie Han, Kiong, Chung Tze   +3 more
core  

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis. [PDF]

Mol Genet Genomic Med
Liu Q, Cheng X, Zheng B, Wang C, Zhou W, Zhang A.   +5 more
europepmc   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I. [PDF]

Prenat Diagn
Liebmann A, Richter T, Krstić N, Hoopmann M, Kagan KO, Menig-Benzig LS, Olivieri S, Riess O, Dufke A.   +8 more
europepmc   +1 more source

Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester. [PDF]

Prenat Diagn
Liu P, Luo HY, Li DZ.
europepmc   +1 more source

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses. [PDF]

Prenat Diagn
Ramini J, van Tonder C, Swart Y, Rademan K, Budhram S, Geerts L, Moosa S.   +6 more
europepmc   +1 more source

Defective Ala Nasi - Johanson Blizzard Syndrome. [PDF]

Indian J Dermatol
Chandrakala C, Devi SS, Lakshmi R, Karpagam B, Raju P.   +4 more
europepmc   +1 more source

Massive Mandibular Advancement With Bilateral Sagittal Split Osteotomy and Rib Bone Grafts for Pierre Robin Sequence. [PDF]

Plast Reconstr Surg Glob Open
Ueno K, Wang PF, Chen LW, Chou PY, Huang CS, Chen YR.   +5 more
europepmc   +1 more source

Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later-Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia. [PDF]

Case Rep Genet
Arany ES, Zocche D, Cobben J.
europepmc   +1 more source

Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. [PDF]

Cureus
Suzui R, Wada I, Matsubara M, Kataoka D.
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source