A 4-year-old boy presents to his pediatrician for severe developmental delay. On exam he is noted to have macroorchidism, hypertelorism, large protruding ears, a large jaw, and a long thin face. Suspicious of what the diagnosis may be, the pediatrician orders a PCR and DNA sequencing. The results reveal an expansion of 250 repeats of CGG. What is the diagnosis of the boy?
AHuntington's disease
BSpinal and bulbar muscular atrophy
CMyotonic dystrophy type 1
DFragile X syndrome
EFriedreich ataxia
A 10-year-old boy comes for a post-operative clinic visit with his ENT surgeon three months after airway reconstruction surgery and placement of a tracheostomy tube. Since the surgery, he says that he has been able to breathe better and is now getting used to tracheostomy care and tracheostomy tube changes. In addition to this surgery, he has had over twenty surgeries to implant hearing aids, reconstruct his cheekbones, and support his jaw to enable him to swallow. He was born with these abnormalities and had difficult breathing, hearing, and eating throughout his childhood. Fortunately, he is now beginning to feel better and is able to attend public school where he is one of the best students in the class. Abnormal development of which of the following structures is most likely responsible for this patient's malformations?
ASecond branchial cleft
BFirst branchial pouch
CThird and fourth branchial pouches
DFirst branchial arch
ESecond branchial arch
A 29-year-old mother brings in her 2-week-old baby boy to a pediatrician because he has been having difficulty feeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home without complications. She says that her son seems to be having difficulty sucking, and she occasionally sees breast milk coming out of the infant’s nose. Physical exam reveals that this patient has a gap between his oral and nasal cavities behind the incisive foramen. He is therefore prescribed specialized bottles and his mom is taught positional techniques to ensure better feeding. Failure to fuse which of the following structures is most likely responsible for this patient's disorder?
AMaxillary and medial nasal prominences
BNasal septum with primary plates
CMaxillary and lateral nasal prominences
DPalatine shelves with primary plates
EPalatine shelves with nasal septum
+ 7 more in the PDF
Browse all chapters