Name That Syndrome
What skeletal dysplasia is known for asphyxiating thoracic dysplasia?
Jeune Syndrome
Aplasia
What is the most common tumor of the neonate?
Sacrococcygeal Teratoma
Tell me what VACTERL stands for
Vertebral, Anorectal, Cardiac Tracheoesophageal, Renal, Limb
What's the word for a short proximal limb?
Rhizomelia
What type of Osteogenesis Imperfecta is autosomal dominant, has normal bone echogenicity, no bone bowing, can cause deafness
Type 1 Osteogenesis Imperfecta
What is the absence of one or more extremities below the elbow or knee?
Hemimelia
What is the MC lethal form of dwarfism?
Thanatophoric Dysplasia
What type of Osteogensis Imperfecta is lethal?
Type II Osteogenesis Imperfecta
What's the word for a short middle segment of a limb?
Mesomelia
Arthrogryposis
What is the absence of one or more hands?
Acheiria
Which Thanatophoric Dysplasia will commonly have a cloverleaf skull?
Type II Thanatophoric Dysplasia
I have a bent tibia and femur...which Dysplasia do I have?
Camptomelic Dysplasia
What's the word for shortening of the entire limb?
Micromelia
What is a genetic disorder affecting cartilage where you may see micromelia, talipes, cleft palate, micrognathia, and/or hitch-hiker thumb?
Diastropic Dysplasia
What is the absence of the proximal portion of an extremity, with the hand or foot attached to the trunk?
Phocomelia
Tell me how early can fetal limb buds be visualized on a transvaginal ultrasound?
8 wks
I have hypomineralization of the spine that is caused by an alkaline phosphatase deficiency. What condition do I have? By the way...its lethal
Congenital Hypophosphatasia
Whats two other names for Club Foot?
Talipes and Equionovarius
On ultrasound I have a narrow thorax that is causing pulmonary hypoplasia and I am short. I might have polydactyly and/or a heart defect as well. By the way I am from the Amish Community. I might have what syndrome?
Ellis-Van Creveld Syndrome
What is the absence of part of a limb?
Meromelia
This syndrome you see phocomelia with the upper extremities more severely affected, bilateral cleft lip/palate, and hypertelorism
Roberts Syndrome
I have an extra digit on the pinky side of my hand. What type of polydactyly do I have?
Postaxial Polydactyly
What's the word for absence of one or more feet?
Apodia