Special Imaging Casebook &&&&&&&&&&&&&& Diaphragmatic With Homolateral Limb Reduction

Thomas E. Herman, MD callosum, , myopia, and deafness is believed to be an Marilyn J. Siegel, MD autosomal recessive condition.8 There are at least four malformations that preferentially associate with CDH.2 These are (a) polysplenia syndrome, (b) ipsilateral CASE PRESENTATION limb reduction, (c) and (d) caudal dysgenesis with A 3500-g was born at term after a complicated by costovertebral anomalies. Seven other malformations are associated an intrauterine sonogram demonstrating a left chest mass and other with , although this association is not thought to be anomalies. He developed severe respiratory distress immediately after preferential. These are cleft lip/palate, , esophageal birth. An initial radiograph demonstrated a right pneumothorax for atresia, microphthalmia, holoprosencephaly, nail hypoplasia, and which a right chest tube was placed. Follow-up radiographs and microcephaly.2,9 abdominothoracic sonograms were obtained (Figures 1 and 2). The limb reduction noted in our patient is more severe than that noted in many of the other reported patients. The limb reductions previously described have included severe with small DENOUEMENT AND DISCUSSION ossicles and digits articulating with a hypoplastic scapula, hypoplastic humerus and forearm, absent radius and missing digits, The radiographs demonstrate a pneumothorax, pneumoperitoneum, and hypoplastic forearm and digits.5,9,10 In our patient the left Bochdalek hernia, and absence of the left . Bilateral single homolateral limb reduction was essentially complete. Only a renal cysts are present. The chromosomes were normal. No other malformed scapula was present on the left side. The significance of anomalies were identified. the renal cysts in this patient is not certain because no other Although congenital (CDH) is usually an anomalies were identified. isolated nonsyndromic anomaly, it may occur as part of a well- The so-called sensitive period for malformations of the arm (26 defined syndrome, in association or with other malformations.1–3 to 36 days’ gestation), and diaphragm (28 to 48 days) overlap There are several well-known congenital malformation syndromes significantly. It is believed that a defect in neural crest development of associated with CDH. These include trisomy 13, trisomy 18, trisomy the cervical occurs that leads to the combined limb deficiency 21, Turner syndrome, Fryns syndrome, Pallister-Hall syndrome, and CDH. The reason the limb reduction is homolateral to the Cornelia de Lange syndrome, Saal-Bulas syndrome and Gershoni- Bochdalek hernia and therefore, in all reported cases on the left is not Baruch syndrome.3–5 The trisomies and Turner syndrome are easily certain although asymmetry in the development of the vessels of the diagnosed. Fryns syndrome is an autosomal recessive condition cervicothoracic region embryologically may be the basis because an consisting of CDH, brachytelephalangy (short distal phalanges) injury to the neural crest in the embryonic cervical region during the with nail hypoplasia, cleft lip, cystic renal disease and coarse facies.6 critical period would result in developmental deficiency of the arm Pallister-Killian syndrome or tetrasomy 12p is associated with CDH, and diaphragm. anorectal malformation, typical facies, and supernumerary nipples.7 Severe motor and mental retardation and skeletal anomalies characterize the Cornelia de Lange syndrome. The Saal-Bulas References syndrome consists of , CDH, agenesis of the corpus 1. Austin-Ward ED, Taucher SC. Familial congenital diaphragmatic hernia: is 5 callosum, and disease. The Gershoni-Baruch syndrome an imprinting mechanism involved? J Med Genet 1999;36:578–9. consists of CDH, omphalocele, radial ray defects, and hepatic cyst.5 A 2. Martinez-Frias ML, Prieto L, Urioste M, Bermejo E. Clinical/epidemiological syndrome of diaphragmatic hernia, exomphalos, absent corpus analysis of congenital anomalies associated with diaphragmatic hernia. Am J Med Genet 1996;62:71–6. 3. Migliazza L, Xia H, Diez-Pardo JA, Tovar JA. Skeletal malformations

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO. associated with congenital diaphragmatic hernia: experimental and human studies. J Pediatr Surg 1999;34e:1624–9. Address correspondence and reprint requests to Thomas E. Herman, MD, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway Boulevard, St. 4. Ryan CA, Finer NN, Etches PC, Tierney AJ, Peliowski A. Congenital Louis, MO 63110. diaphragmatic hernia: associated malformations — cystic adenomatoid

Journal of Perinatology 2001; 21:412 – 413 # 2001 Nature Publishing Group All rights reserved. 0743-8346/01 $17 412 www.nature.com/jp Diaphragmatic Hernia With Homolateral Limb Reduction Herman and Siegel

malformation, extralobular sequestration and LTE cleft: two case reports. Pediatr Surg 1995;30:883–5.

Figure 2. Longitudinal sonograms (A.) right kidney and (B.)left kidney. Single bilateral renal cysts are present (arrows).

5. Wallerstein R, Wallerstein DF, Trauufer P, Desposito F. Congenital diaphragmatic hernia and ipsilateral limb defect: a new case, long term followup and review of the literature. Clin Dymorphol 1997;6:161–217. 6. Ayme S, Julian C, Gambarelli D, et al. Fryns syndrome: report of 8 new cases. Clin Genet 1991;35:191–201. 7. Schinzel A. Tetrasomy 12p (Pallister Killian syndrome). J Med Genet 1991;28:122–5. 8. Gripp KW, Donnai D, Clericuzio CL, McDonald McGinn DM, Guttenberg M, Zackai EH. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. Am J Med Genet 1997;68:441–4. 9. Al Salem AH, Qaisruddin S, Varma KK. Concurrent left congenital diaphragmatic hernia and esophageal atresia: case report and review of Figure 1. A., Anteroposterior chest and in the delivery suite and the literature. J Pediatr Surg 1997;32:772–4. B., anteroposterior chest after stabilization and placement of a right chest 10. McCredie J, Reid IS. Congenital diaphragmatic hernia associated with tube. A pneumoperitoneum and bilateral pneumothoraces are evident as homolateral upper limb malformation: a study of possible pathogenesis in well as a large left diaphragmatic hernia. Both films also show absence of four cases. J Pediatr 1978;92:762–5. the left upper extremity beyond a malformed left scapula (arrowheads).

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