Vertebral and Eye Anomalies, Cutis Aplasia, andShort Stature (VECS): A New Syndrome?

C. Prasad,* M. Connolly-Wilson, and T.O. RosalesMedical Genetics Program, Janeway Child Health Centre, St. John’s Newfoundland, Canada

We report on a 6-year-old girl with shortstature, facial anomalies, cutis aplasia, na-solacrimal duct obstruction, megalocor-neae, kyphoscoliosis with multiple segmen-tation defects of the thoracic vertebrae, and11 pairs of ribs. These anomalies togethermay represent a newly recognized syn-drome. Am. J. Med. Genet. 77:225–227, 1998.© 1998 Wiley-Liss, Inc.

KEY WORDS: vertebral segmentat ionanomalies; scoliosis; megalo-cornea; cutis aplasia

INTRODUCTION

Costovertebral anomalies occur in a number of clini-cal syndromes such as spondylocostal dysostosis, spon-dylothoracic dysostosis [Mortier et al., 1996], and Jar-cho-Levin syndrome [Jarcho and Levin, 1938]. Verte-bral anomalies are also described in the VATERassociation. Here, we report on a syndrome differentfrom previously reported costovertebral syndromes.

CLINICAL REPORT

This girl was born to a 37-year-old G4P3 mother at 38weeks by cesarean section for a breech presentation.Birth weight was 2790 g (just below the mean), lengthwas 50 cm (just above the mean), and head circumfer-ence (OFC) was 34.5 cm (just below the mean). Theparents are 3rd cousins (coefficient of inbreeding 40.0039). A paternal male first cousin has a marfanoidhabitus. His mother and sister are known to be carriersof a balanced chromosome 13/14 translocation. Anolder brother of the proposita died of presumed rubellainfection at age 6 weeks. Autopsy showed bilateralcataracts, high-arched palate, flexion contractures ofthe wrists, and a micropenis. The cranial sutures werewidely separated. Central nervous system abnormali-

ties included a large interhemispheric cyst and micro-gyria. Chromosomes were reported normal.

Physical examination of our patient after birthshowed cutis aplasia measuring 3.8 × 1.5 cm over thescalp, a triangular face, prominent eyes, and a pointedchin (Fig. 1). She had persistent epiphora since birth.The fingers were long, and nails were hypoplastic.There was mild syndactyly of the second and third toes.

During the ensuing years, she developed progressivekyphoscoliosis that required spinal fusion and applica-tion of brace (Fig. 2). At age 5 years, 5 months sheweighed 12 kg (<5th centile), her height was 93 cm(<5th centile), and OFC was 52 cm (mean +2 S.D.). Arecent examination disclosed: healed scalp area withdeficiency as described before, megalocorneae with lac-rimal duct obstruction, up-slanting palpebral fissures,widely spaced eyes, normally placed ears, flat midface,small chin, pectus carinatum, inadequate subcutane-

*Correspondence to: Dr. Chitra Prasad, FRCPC, Medical Ge-netics Program, Janeway Child Health Centre, St. John’s New-foundland, Canada A1A1R8. E-mail: cprasad@nf.sympatico.ca

Received 17 December 1997; Accepted 26 February 1998 Fig. 1. Frontal profile with prominent eyes (at age 1 year).

American Journal of Medical Genetics 77:225–227 (1998)

© 1998 Wiley-Liss, Inc.

ous tissue, and a delicate translucent skin with visibleprominent venous patterning (Fig. 3). In the righthand, the fifth proximal and distal interphalangealjoints are underdeveloped. The fourth distal interpha-langeal space is also similarly underdeveloped with anabsence of interphalangeal creases. In the left hand,the fourth and fifth interphalangeal joints are under-developed with absent creases. She is unable to flex herfifth fingers in both hands (Fig. 4). All finger tip pat-terns are simple arches. There is no visible thenar orhypothenar pattern. A sacral dimple is present. Devel-opmental assessment suggests almost normal grossmotor milestones and mildly delayed speech with nor-mal hearing evaluation. Fine motor delays are me-chanical because of limitations imposed by the skeletalabnormalities.

Skeletal survey showed sagittal synostosis, delayedbone age (6 months), thoracic vertebral segmentationabnormalities, gibbus formation (Fig. 5), 11 pairs ofribs, bilateral coxa valga, and mild bowing of the radiiand ulnae. Karyotype (525 band level) was normal. Mu-copolysaccharide excretion was normal. Cardiac evalu-ation indicated mild dilatation of ascending and de-scending aorta (95th centile for age). She remains underfollow-up for her orthopedic and other developmentalanomalies.

DISCUSSION

Megalocornea may occur in children with skeletalanomalies such as kyphoscoliosis and club feet as re-ported in an 18-month-old Arab girl [Frank et al.,

1973]. However, we describe a newly recognized syn-drome of short stature, kyphoscoliosis with multiplesegmentation defects of the thoracic vertebrae, 11 pairsof ribs, facial anomalies, hand abnormalities, nasolac-

Fig. 2. Marked kyphoscoliosis at 5 years.

Fig. 4. Camptodactyly of the 5th fingers.

Fig. 3. Pectus deformity, deficient subcutaneous tissue seen at age 4years.

226 Prasad et al.

rimal duct obstruction, cutis aplasia, and megalocor-neae (Table I) with normal parents. The manifestationsin our patient are different from other known costover-tebral syndromes and may possibly have an autosomalrecessive inheritance based on parental consanguinity.

ACKNOWLEDGMENTS

We are grateful to the patient and her family fortheir cooperation. We have benefited greatly from our

discussions with Dr. R. S. Lachman and Dr. D. L.Rimoin regarding the skeletal manifestations. Wethank Dr. R. S. Lachman, Dr. M. Michael Cohen Jr.,and Dr. J. Allanson for their critical review of themanuscript.

REFERENCES

Jarcho S, Levin PM (1938): Hereditary malformation of the vertebral bod-ies. Bull Johns Hopkins Hosp 62:216–226.

Mortier GR, Lachman RS, Bocian M, Rimoin DL (1996): Multiple vertebralsegmentation defects: Analysis of 26 new patients and review of theliterature. Am J Med Genet 61:310–319.

Frank Y, Ziprkowski M, Romano A, Stein R, Katznelson MB, Cohen B,Goodman RM (1973): Megalocornea associated with multiple skeletalanomalies: A new genetic syndrome? J Genet Hum 21:67–72.

Fig. 5. Radiographic film of the thorax, abdomen, and pelvis withmarked kyphoscoliosis.

TABLE I. Key Manifestations of the Newly DescribedSyndrome: Vertebral Anomalies, Eye Anomalies, Cutis Aplasia,

and Short Stature (VECS Syndrome)

System Clinical findings

Craniofacial Triangular facePointed chinSagittal craniosynostosis

Eye defects MegalocorneaeNasolacrimal duct obstruction

Dermatological Cutis aplasisThin translucent skinLack of subcutaneous tissueProminent venous patterningHirsutism

Skeletal manifestations Short statureKyphoscoliosisGibbusSegmentation defects of the

thoracic vertebraePectus carinatum11 pair of ribsBilateral fifth finger camptodactyly

Central nervous system Normal intelligenceMild delay in speech

Cardiac Mild dilatation of ascending anddescending aorta (95th centilefor age) (on echocardiogram)

VECS Syndrome 227