Volume 8 Issue 3 - Australasian Society for Ultrasound in Medicine

D Fauchon, S Watson and R Benzieor syndrome, or with other limb anomalies including polydactylyand syndactyly. It may also occur as a result of ateratogenic insult 4 .An in utero diagnosis of brachydactyly was not madein this instance. Short toes on both feet can be seen on thepostnatal photographs.Figure 9 Postnatal x-ray of both feet. Malformation of the metatarsalsof the left foot were consistently identified in the prenatalultrasoundsFigure 10 Postnatal photographs of both hands. Syndactyly can benoticed between the 3rd and 4th fingers on the right hand and the2nd and 3rd fingers on the lefy handThe preaxial polydactyly on the right foot was evidentat the time of the 21 week scan (Figure 1) as an extra nubbinof tissue arising at an abnormal angle from the big toe.Follow up scans including 3D imaging at later gestations,clearly demonstrated the initial findings. Postnatal x-raysconfirmed the lack of an ossification centre.BrachydactylyBrachydactyly is the shortening of the digits resulting fromanomalous development of the phalanges or metatarsals/metacarpals. It may occur as a feature of a skeletal dysplasiaOral-facial-digital syndromeOral-facial-digital syndrome (OFDS) is comprised of aheterogenous group of disorders characterised by anomaliesof the face, oral cavity and digits. Abnormalities of otherorgan systems including the central nervous system, theurinary tract and tibial and radial defects have also beenidentified and associated with this syndromic spectrum. Todate 11 different types of the OFDS have been identified.Overlapping clinical features between OFDS and a widevariety of other syndromes make precise clinical identificationdifficult 5 .CNS anomalies occur in approximately 13% of cases withcomplete or partial agenesis of the corpus callosum the mostfrequently detected anomaly 6 . The digital anomalies of the handsand/or feet commonly seen in this syndrome include syndactyly,polydactyly, brachydactyly and clinodactyly. Bilateral bifidity ofthe great toe is a characteristic finding of OFDS II 7 .The child in this case was eventually thought to be amosaic within the broad spectrum of oral-facial-digitalsyndrome. To date, a definitive classification of the specifictype has not been made.ConclusionThe 18-week scan identified the bilateral hydrocephalusand malformation of the metatarsals of the left foot and preaxialpolydactyly of the right foot. The syndactyly andbrachydactyly were undetected prenatally as was the absentcorpus callosum, in spite of repeated ultrasounds.Three-dimensional imaging of the feet was helpful forthe parents to appreciate the likely anomalies. It alsoprovided more information for the clinician. Serial scanningmay reveal more information with increasing gestation. Thepostnatal findings have narrowed down the likely diagnosis,although, even at this stage a definitive diagnosis has notbeen reached. This case reminds us of the limitations ofantenatal ultrasound diagnosis. It also confirms the adage,“Find one anomaly, look for more!”AcknowledgementWe would like to acknowledge Dr. Linda Goodwin of theGenetics Department at Nepean Hospital for providing thepostnatal photographs for this case presentation.References1 Moore KL and Persaud TVN (1998) The Developing HumanClinically Oriented Embryology, WB Saunders, Philadelphia.2 Cotran RS, Kumar V and Robbins SL (1994 ) Pathological Basis forDisease, 5th Edition, WB Saunders, Philadelphia.3 Fanaroff: (2002) Neonatal-Perinatal Medicine: Diseases of the Fetusand Infant, 7th Edition, Mosby, USA.4 Platypus (1999) TKI Medcon, Canada.5 Sakai et al (2002) Oral Facial Digital Syndrome Type II: Clinical andGenetic Manifestations, Journal of Cranio Facial Surgery 13 (2): 321–326.6 Patrizi A, Orlandi C, Neri I, Bardazzi F and Cocchi G (1999) WhatSyndrome is This?, Pediatric Dermatology 16 (4): 329–331.7 Buyse ML, Birth Defects Encyclopaedia, Blackwell ScientificPublications, USA 1990.ASUM Ultrasound Bulletin 2005 August; 8 (3)17