Congenital defects — Flashcards

What is the likely diagnosis in a child that presents with short stature, hypoplastic thumbs, abnormal skin pigmentation and aplastic, macrocytic anemia? _____

_____ is an ear pathology that presents in children with retracted tympanic membrane, tinnitus, and popping with swallowing

- Duodenal atresia - Annular pancreas - Malrotation/volvulus - Intestinal atresia → _____ - Pyloric stenosis - Tracheoesophageal fistula → _____

Hint: Bilious/Non-bilious

What is the likely diagnosis in a newborn with microcephaly, hirsutism, phalanx/nail hypoplasia, and a cleft palate? _____

Does cerebral palsy or spinal dysraphism usually present at birth? _____

Beckwith-Wiedemann syndrome is associated with polyhydramnios _____

Hint: T/F

Rapid Diagnosis Omphalocele, rocker-bottom feet/hammer toe, microcephaly, clenched hand: _____

What is the treatment for umbilical hernias in children? _____

_____ is associated with supravalvular aortic stenosis

Hint: congenital condition

Neuroblastoma arising in the cervical paravertebral sympathetic chain can present as isolated _____ syndrome