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The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca+13 more
wiley +1 more source
MORPHOLOGICAL STUDIES ON EXPERIMENTALLY INDUCED CLEFT PALATES OF MICE
Shigemasa HOSHINO
openalex +2 more sources
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc+5 more
wiley +1 more source
Cleft Palate-Lateral Synechiae Syndrome: A Case Report. [PDF]
Thomas C, K P D, Raphel P, Jose N.
europepmc +1 more source
ABSTRACT Aim To evaluate the application of a synthetic bi‐layered biphasic calcium‐phosphate (BBCP) bone substitute for its capacity for new bone formation in Guided Bone Regeneration (GBR) in an acute‐defect model in Beagle dogs. Material and Methods Standardized bone defects were created following the extraction of the maxillary 1P1, 2P2, 4P4 and ...
Kiri N. Lang+3 more
wiley +1 more source
The Usefulness of ETDQ‐7 Score in Assessing ETD
ABSTRACT Introduction The ETDQ‐7 questionnaire has been validated for diagnosing Eustachian tube dysfunction (ETD) and a minimal clinically important difference (MCID) of > 3.5 has been suggested. We aim to assess the use of ETDQ‐7 for assessing ETD and a potential correlation between ETDQ‐7 and the Sino‐Nasal Outcome Test 22 (SNOT‐22). Methods ETD was
Niels Højvang Holm, Therese Ovesen
wiley +1 more source
Dental rehabilitation of cleft palate patients using zygomatic implants: A case report. [PDF]
Creo-Martinez T+3 more
europepmc +1 more source