Brief Clinical Report

Body Wall Defects in Two Sibs

A.T.J.M. Helderman-van den Enden,1* M.M. Bartelings,2 I.L. van Kamp,3 and J.C. Oosterwijk1

1Department of Clinical Genetics, University Hospital Leiden, Leiden, The Netherlands2Department of Anatomy and Embryology, University of Leiden, Leiden, The Netherlands3Department of Obstetrics, University Hospital Leiden, Leiden, The Netherlands

We describe 2 sibs, a male fetus with an un-usual lumbar hernia and spina bifida oc-culta, and a female fetus with a median ab-dominoschisis. The first fetus had somesigns of lumbocostovertebral syndrome(LCVS), which consists of a congenital lum-bar hernia and associated abnormalitiessuch as absent or hypoplastic ribs, hemiver-tebrae, and scoliosis. Abdominoschisis hasnot been described in LCVS, and the givenabnormalities in the 2 sibs have not beenpublished to date. One can hypothesize thatvascular disruption of a somite or a group ofsomites may result in the described abdomi-nal wall defects. We conclude that these ab-normalities could be coincidental in the 2sibs or could have a related, probably mul-tifactorial, cause. Am. J. Med. Genet. 73:15–18, 1997. © 1997 Wiley-Liss, Inc.

KEY WORDS: abdominal wall defect; lum-bar hernia; lumbocostoverte-bral syndrome; spina bifidaocculta; autosomal-recessiveinheritance; recurrence risk

INTRODUCTION

We would like to draw attention to the remarkableoccurrence of body wall defects in 2 sibs: a male fetuswith an (unusual) lumbar hernia and spina bifida oc-culta, and a female fetus with median abdominoschisis.

Isolated abdominal wall defects are usually sporadic,and the recurrence risk is low. On the other hand, fa-milial omphalocele was described at least 18 times[Pryde et al., 1992], both in sibs and in parent andchild. Familial ‘‘gastroschisis’’ was described in at least11 families [Torfs et al., 1990]. Omphalocele or ‘‘gas-

troschisis’’ in combination with other ventral wall de-fects (e.g., inguinal, umbilical hernias) was described inseveral families [DiLiberti, 1982; Lurie and Ilyina,1984; Pryde et al., 1992; Ventruto et al., 1985; Salinaset al., 1979]. To our knowledge, the occurrence of ab-dominoschisis in a girl and of a lumbar hernia in herbrother has not been described before.

The 42-year-old father and 32-year-old mother arehealthy and nonconsanguineous. They have onehealthy son, born after the first pregnancy. The thirdpregnancy ended in a miscarriage at 8 weeks of gesta-tion. This embryo was not investigated. A sister of thefather died of spina bifida. X-ray study of the lumbarspine of the father was normal. Cytogenetic investiga-tion of the parents was normal. The second and fourthpregnancies resulted in cases 1 and 2, described here.

CLINICAL REPORTSCase 1

During pregnancy, routine ultrasound showed intra-uterine death at 17 weeks. Further sonographic exami-nation showed no abnormalities, but the fetus could notbe visualized well because of the small amount of am-niotic fluid. A severely macerated male fetus (Fig. 1)was born after induction 5 days later. Biometry sug-gested a gestational age of 16 weeks. Physical anoma-lies were difficult to evaluate because of macerationand postmortem change, but anteverted nostrils werenoted. The palate was intact. The anus, external geni-talia, umbilical cord, and limbs showed no abnormali-ties. The body wall showed a skin defect of 25 mm,which is considered to be at least partially the result ofautolysis. Below the skin defect the muscular body wallalso showed a defect (12 mm) in the right inferior lum-bar triangle (triangle of Petit). The muscles themselvesappeared to be intact, and the edges of the defect of themuscular body wall were smooth and not torn as withautolytic changes. Through the defect the intestinesand a small part of the liver were herniated. Apartfrom the body wall defect, an occult spinal defect fromthe first till the fifth sacral vertebral body without me-ningomyelocele was detected. The sternum, thymus,heart, lungs, diaphragm, gallbladder, stomach, spleen,kidneys, bladder, and internal genitalia were all nor-mal. Radiography showed no abnormalities of the ribsand spine. Cytogenetic investigation and histopathol-ogy were not performed.

J.C. Oosterwijk is presently at the Department of Medical Ge-netics, University Hospital Groningen, Groningen, The Nether-lands.

*Correspondence to: A.T.J.M. Helderman-van den Enden, De-partment of Clinical Genetics, University Hospital Leiden, K5-R,P.O. Box 9600, 2300 RC Leiden, The Netherlands.

Received 22 February 1996; Accepted 19 May 1997

American Journal of Medical Genetics 73:15–18 (1997)

© 1997 Wiley-Liss, Inc.

The parents were counselled that the risk of recur-rence was low. Periconceptional folic acid was advised,and prenatal ultrasound and amniocentesis were of-fered because of the occult spinal defect.

Case 2

The fourth pregnancy ended with the spontaneousloss of a severely macerated and deformed female fetusat 12 weeks of gestation (Fig. 2). Biometry suggested agestational age of 12 weeks. Anteverted nostrils werenoted. The hard palate appeared intact and the jawswere normal. The anterior abdominal wall showed adefect in the midline, subdiaphragmatically. The cau-dal edges of the defect were rough and appeared torn.In contrast, the cranial edges were smooth. A develop-mental defect with secondary autolytic changes, espe-cially caudally, seems most likely. The umbilical cordand its attachments were not present anymore. Theinternal organs, herniated through the defect, were notcovered with peritoneum. The spine appeared to be in-tact. The thymus was bilobed, and the heart and lungswere normal. The diaphragm appeared intact, thoughthe right side could not be evaluated completely be-cause of maceration. The liver was partly extraabdomi-nal, as were the intestines. The gallbladder could notbe identified. The spleen, stomach, kidneys, adrenals,

and internal genitalia were normal. The bladder waspartially torn. It was concluded that, most probably,there was an abdominoschisis which was enlargedtraumatically. Cytogenetic investigation of the pla-centa showed a normal female karyotype. Histopatho-logy was not performed.

DISCUSSION

The lumbar region is bordered by the twelfth rib cra-nially, the crest of the iliac bone caudally, the erectorspinae muscle medially, and the posterior border of theexternal oblique muscle laterally. Lumbar hernias canbe divided into the more frequent superior lumbar tri-angle (Grynfelt-Lesshaft) type and the inferior lumbartriangle (Petit) type. They can be classified as congen-ital or acquired, spontaneous or posttraumatic, postop-erative or incisional, or rarely as a complication of aneuroblastoma [Geis and Saletta, 1989; Lafer, 1994].

In the recent article by Lafer [1994], 16 children withcongenital lumbar hernia were mentioned. Twelve ofthese had associated anomalies such as absent or hy-poplastic ribs, hemivertebrae, and scoliosis. This com-bination is also called lumbocostovertebral syndrome(LCVS) [Touloukian, 1972].

Our case 1 most probably had LCVS, based on the

Fig. 1. A: Macerated male fetus seen from the back, with the defect of the body wall in the right lumbar triangle. B: Detail of the area of the defectafter removal of the skin.

16 Helderman-van den Enden et al.

presence of the lumbar hernia and the spina bifida oc-culta. To our knowledge the occurrence of LCVS and anabdominoschisis in a sibship has not been describedbefore. It could be a coincidence, or both abnormalitiescould have a related cause.

We considered the pentalogy of Cantrell, consistingof abnormalities of the abdominal wall, and of dia-phragmatic, sternal, pericardial, and cardiac defects[Kousseff et al., 1996], in case 1, but this seems un-likely because there were only abnormalities of thelumbar body wall and of the spine.

Among others, Larsen [1993] proposed that the ab-dominal dermis, the abdominal muscles, and the lum-bar vertebrae are formed from five lumbar somites.The five sacral somites form the sacrum with its asso-ciated dermis and musculature. According to Tou-loukian [1972], LCVS might be caused by a ‘‘transientepisode of anoxia’’ resulting in agenesis or an arrest inthe development of one or more somites between thethird and fifth week of embryonic development. Torfset al. [1990] concluded that ‘‘interruption of the earlyembryonic vasculature is at present the most likelypathogenetic mechanism in gastroschisis’’ (abdomino-schisis). Abdominoschisis is usually on the right side,which supports the idea that it is caused by an abnor-mality in the involution of the right umbilical vein in

the fifth and sixth weeks of embryological develop-ment. As a consequence, this results in a maldevelop-ment of associated mesodermal elements in that regionof the body [Larsen, 1993].

One can imagine that interruption of the vasculaturein a somite or group of somites (and in the developingsclerotome, dermatome, and myotome from thesesomites) can lead to LCVS. LCVS would then have tobe classified as a defect of blastogenesis, since the prob-lem is in the first 4 weeks of development. On the otherhand, a vascular accident leading to breakdown of nor-mal tissues is regarded as a disruption sequence[Opitz, 1993]. Since we do not know the cause andtiming of abnormalities in our cases, it is not possible todecide whether they should be called a defect in blas-togenesis or a disruption sequence.

Whatever the cause, it is difficult to draw conclu-sions. An exogenous cause is highly unlikely, since bothstudied pregnancies were uneventful, with no mentionof maternal disease, trauma, or other teratogen expo-sures. Family history shows one case of spina bifida inthe father’s family which could indicate a multifacto-rial liability to midline closure defects [Czeizel, 1981],reflected in the occult spina bifida in one sib and amidline abdominoschisis in the other. Given the factthat 2 sibs of unlike sex were affected, autosomal-

Fig. 2. A: Macerated female fetus, with a median abdominoschisis. B: Detail of the area of the abdominoschisis. The smooth cranial edge of the defectis indicated by an arrow.

Body Wall Defects in Two Sibs 17

recessive inheritance must also be considered. How-ever, the absence of consanguinity and the lack of docu-mented autosomal-recessive cases in the literaturemake this possibility questionable. Lumbocostoverte-bral syndrome is causally heterogeneous and no spe-cific mode of inheritance has been postulated. We con-sider multifactorial inheritance as most likely, if thereis indeed a correlation between the birth defects inthese 2 sibs.

We would like to learn whether similar cases areknown.

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