Clinical Genetics and Dysmorphology Case

You see a patient in an urgent care center and notice the presence of microbrachycephaly and micrognathia.
Clinical Genetics and Dysmorphology Case

The patient has a low hairline, synophrys, arched eyebrows, long eyelashes, a thin upper lip and low-set ears. In examining the patient's extremities, you note spade like hands, 2–3 syndactyly of toes.

What is the most likely syndrome?

A. Moebius sequence

B. Sturge–Weber syndrome

C. Cornilia de Lange syndrome

D. Beckwith–Wiedemann syndrome

E. Cleidocranial dysplasia


The correct answer is CThis patient most likely has Cornelia de Lange syndrome.

Moebius sequence is associated with congenital facial palsy, cranial nerve VI and VII palsy, distal limb deficiencies, occasional arthrogryposis, and/or mental retardation

Sturge–Weber syndrome is associated with hemangiomata in the distribution of the trigeminal nerve, glaucoma, and seizures

Beckwith–Wiedemann syndrome is associated with coarse facial features, macroglossia (often with secondary maxillary and mandibular deformity), ear lobe creases, posterior auricular pits, mid face hypoplasia, omphalocele, generalized overgrowth or hemihypertrophy, visceromegaly, Wilms tumor (and other malignancies), cryptorchidism, and cardiomyopathy.

Cleidocranial dysplasia is associated with brachycephaly, frontal and parietal bossing, wormian bones, persistent open anterior fontanelle, maxillary hypoplasia, delayed eruption of deciduous and permanent teeth, supernumerary and fused teeth, hypoplastic to absent clavicles, brachydactyly, and joint laxity. (Chapter 177: "Craniofacial Disorders")


Question & Explanation: Cabana MD. Rudolph’s Pediatrics, 22e, Self-Assessment and Board Review New York, NY: McGraw-Hill Education; 2014.

Photo: Wells RG. Diagnostic Imaging of Infants and Children; 2015.