We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source
Dental maturity in children with cleft lip and palate compared with children without cleft lip and palate living in the Western Region of Saudi Arabia. [PDF]
Alswajy WA, Alsulaimani FF.
europepmc +1 more source
Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. [PDF]
D'ARMIENTO, MARIA +6 more
core +1 more source
We undertook a scoping review to understand communication about sexuality for adolescents with cerebral palsy and complex communication needs. We can understand communication about sexuality by examining the content, context, and influencing factors of that communication. This scoping review is commented on by Detandt on pages 8–9 of this issue.
Megan Walsh +7 more
wiley +1 more source
Pharyngeal Airway Architecture in Patients with Cleft Lip and Palate by Cone-beam Computed Tomography: Review of Literature. [PDF]
Rai S, Bhateja S.
europepmc +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Evaluating the Effectiveness of Nasoalveolar Molding in the Management of Children with Unilateral Cleft Lip and Palate: A Cohort Study. [PDF]
España-Guerrero A +7 more
europepmc +1 more source
ABSTRACT A fused maxillary central incisor in an 11‐year‐old was successfully treated with a multidisciplinary approach, combining surgical sectioning, orthodontic realignment, and composite resin restoration. At 24 months follow‐up, the outcome was highly satisfactory, with no periapical pathosis or periodontal issues, highlighting the effectiveness ...
Firoozeh Alipour +4 more
wiley +1 more source
Effects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study. [PDF]
Fujiwara K +9 more
europepmc +1 more source

