Genes
This gene is implicated in Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndrome.
What is RECQL4?
These digits are most commonly involved in syndactyly.
What are the 2nd and 3rd digits?
This syndrome presents with 5 digits, absent bilateral radii, and thrombocytopenia.
What is TAR?
Smooth philtrum, micrognathia, and high arched eyebrows can sometimes be viewed via prenatal ultrasound along with asymmetrical limb anomalies to identify this syndrome, although this is not standard of practice.
What is Cornelia de Lange?
This term refers to permanent joint contractures in the fingers.
What is clinodactyly?
Specific mutations in this gene account for the vast majority of the genetic cause of achondroplasia.
What is FGFR3?
This is the most common suture involved in non-syndromic craniosynostoses.
What is saggital?
This AD syndrome includes heart defects and hand defects.
What is Holt Oram?
This test is used to diagnose Fanconi anemia.
What is DEB/chromosome breakage study?
This head shape is caused by saggital synostosis.
What is scaphocephaly?
This gene is implicated in Saethre Chotzen syndrome.
What is TWIST1?
This finding, often appreciated on prenatal ultrasound, is typically responsible for perinatal lethality due to skeletal dysplasia.
What is pulmonary hypoplasia?
This syndrome presents with ear malformations, craniosynostosis, and normal intelligence.
What is Saethre Chozen?
This is the best method to diagnose OI or evaluate a child for suspected abuse.
What is a skeletal survey?
This is the type of ossification that occurs after birth.
What is endochondrial ossicification?
Nager syndrome presents with very severe micrognathia as a result of mutations in this gene.
What is SF3B4?
A clover-leaf skull is the most common craniosynostosis in this AR syndrome.
What is Carpenter syndrome?
This syndrome presents with brachycephaly, mid face hypoplasia, and partial syndactyly.
What is Pfifer syndrome?
Osteoporosis is often evaluated using this technology.
What is bone density scan (DEXA)?
This is the term referring to the most common craniofacial condition AFTER cleft lip/palate.
What is hemifacial microsomnia?
Mutations in this gene cause the short stature, vertebral issues, and risk of myopia in spondyloepiphyseal dysplasia.
What is COL2A1?
This is the suture least often involved in non-syndromic craniosynostosis.
What is lambdoid?
This syndrome presents with postaxial polydactyly, occipital encephalocele, and polycystic kidneys.
What is Meckel-Gruber syndrome?
This is the best method to inspect tendons.
What is ultrasound?
This is the term for a head shape created as a result of bicoronal synostosis.
What is brachycephaly?