CLINICAL FINDINGS/Physical Exam: Wt. 3.075 kg, length 19.5 ", head circ. 13". The patient had gorssly normal head shape with very mild cranial asymmetry. The ears, midface, palate, mought and eyes were appeared normal. The chest, abdomen, and genitalia were normal. The anus was not examined due to a large amount of meconium in the diaper. Extremity length appeared grossly normal and proportionate. There was very mild, possibly normal, bowing of the lower legs. The hands showed short thumbs bilaterally, particularly the right thumb, with mild angulation of the right thumb at the IP joint. The second fingers had only two palpable phalanges bilaterally, with a single IP flexion crease. Fingers 3-5 appeared grossly normal bilaterally. There was apparent shortening of the 2nd metacarpals bilaterally. The feet showed very short first toes, significant shortening of the first metatarsals as well as short phalanges of the first toes. Toes 2-5 appeared normal in form but were widely splayed bilaterally. The baby had normal tone, normal gag reflex, good such reflex, and was alert.


RADIOLOGIC FINDINGS:

Evaluation: Skeletal survey, with findings you have provided. (Sorry, I
don't yet have the written report.) The patient had normal echocardiogram
yesterday, performed because of the possible cardiomegaly noted on skeletal
survey.

Impression: The patient's findings may fit with one of the types of
brachydactyly, although the presence of radial hypoplasia doesn't seem to
fit with the brachydactylies. He does not have other obvious dysmorphic
features or congenital anomalies suggestive of a syndrome. I would greatly
appreciate further input regarding possible brachydactyly C or other
diagnostic possibilites.


-Brachydactyly: Shortening and broadening of metacarpals and phalanges.
-Differential Diagnosis: idopathic, trauma, osteomyelitis, arthritis, Turner syndrome, osteochondrodysplasia, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, mucopolysaccaridoses, Cornelia de Lange syndrome, Basal cell nevus syndrome, hereditary multiple exostoses

Dahnert, Wolfgang. Radiology Review Manual 4th Edition. Williams and Wilkins, 1999.

Dr. Philip Silberberg, Radiologist, Children's Hospital, Dr. Ann Haskins Olney, MD, FACMG Clinical Geneticist/Associate Professor of Pediatrics
Munroe-Meyer Institute for Genetics and Rehabilitation, UNMC,Dr. Patric A. Harty, Chief Resident, Creighton University
Chad Eicher, M.D., Radiology Resident, Creighton University Medical Center