An unusual cardiomelic syndrome

American Journal of Medical Genetics 29:333-341 (1988)

An Unusual Cardiomelic Syndrome

Robert F. Stratton, Nancy Koehler, and W. Robert Morrow

Department of Pediatrics, Wilford Hall USAF Medical Center, San Antonio, Texas (R. F. S., W. R. M.); Baylor College of Medicine, Houston, Texas (N. K.)

We report on a patient with pre- and postnatal growth regardation, bilateral symmetrical ulnar agenesis with monodactyly, atrial septal defect, two ventricular septal defects, Wolff-Parkinson- White conduction abnormality, and abnormal configuration of the pancreas. Although she had some facial features reminiscent of the Brachmann-de Lange syndrome, relatively normal head size and motor development indicate a distinct syndrome.

Key words: dwarfing, monodactyly, congenital heart defect, atrial septal defect, ventricular septal defect, Wolff-Parkinson-White syndrome

INTRODUCTION

Congenital absence of the ulna is rare, compared with radial defects. Absence of the ulna has rarely been reported to occur with other congenital defects [Patterson, 1908; Watt, 1917; Kajon, 1921; Van den Berghe et al., 1978; Chemke, et al., 1980; Calabro et al., 19851. We report on a female infant with multiple cardiac defects, pre- and postnatal growth retardation, bilateral symmetrical ulnar agenesis with monodactyly, but no microbrachycephaly or other stigmata of the Brachmann-de Lange syndrome. We think this represents a unique multiple congenital anomalies (MCA) syndrome.

CLINICAL REPORT

The proposita was the firstborn female of healthy nonconsanguinous parents; the mother was 19 years old and the father was 21 years old. The family history was negative

Received for publication March 30, 1987; revision received August 28, 1987.

The views expressed herein are those of the authors and are not necessarily the views of the United States Air Force or the Department of Defense.

Address reprint requests to Lt. Col. Robert F. Stratton, Department of Pediatrics, Wilford Hall USAF Medical Center, San Antonio, TX 78236-5300.

Q 1988 Alan R. Liss, Inc.

334 Stratton, Koehler, and Morrow

Fig. 1 . and relatively small face compared to cranium.

a, b. Patient at 3 months of age. High forehead, thin upper lip, small upturned nose, mild retrognathia,

except for a paternal uncle who died of an unknown congenital heart defect at age 8 months and a maternal great-great uncle who supposedly had short arms and fingers.

The mother took birth control pills until about 6 weeks after her last menstrual period (LMP). She had 2 days of fever associated with streptococcal pharyngitis about 8 weeks after her LMP. This was treated with a 10-day course of penicillin. She smoked eight to ten cigarettes daily. There was weekly exposure to household insecticides between 2 and 4 months of gestation. There was no other illness or hyperthermia, use of ethanol or medications, radiation exposure, or known gestational diabetes mellitus. Routine ultrasound at 21 weeks gestation was reported as normal. The patient was delivered 4 weeks post-term. Birth weight was 2,270 g and length 43 cm (both -3 SD). A single umbilical artery was noted, as well as a small chest and bilateral monodactyly. Because of respiratory distress, she was referred for evaluation of possible pulmonary hypoplasia and congenital heart defect. On echocardiography she was found to have a secundum atrial septal defect (ASD) and a large perimembranous ventricular septal defect (VSD). Over the next 2 months she developed congestive heart failure, with poor weight gain, and required digoxin and diuretics.

At age 3 months, her length was 52% cm (-3 SD), weight was 2.7 kg (-3% SD), and right arm blood pressure was 108/81 mm Hg. The head was normally shaped and appeared large compared to the face (Fig. 1). Occipitofrontal circumference (OFC) was 37.2 cm (third centile), and the anterior fontanelle was 4 x 4 cm. The hair was abundant and stood out from the head. The nasal bridge was low and the nares anteverted. There were capillary hemangiomas on the nose and upper eyelids, synophrys, and telecanthus. Inner canthal'distance was 1.9 cm; outer canthal distance was 5.4 cm. The eyelashes appeared long. The ears were relatively large (1 5th-25th centile) and normally shaped and

An Unusual Cardiomelic Syndrome 335

Fig. 2. ankylosis.

Single view of right arm showing single straight radius, monodactyly, and no bony radiohumeral

placed. The jaw was small and the corners of the mouth downturned. The philtrum was 0.9 cm long and not prominent. The nipples were not wide spaced. There was a GrIII/VI holosystolic murmur along the left sternal border, a GrII/VI diastolic rumble at the apex, and the liver was palpable 2 cm below the right costal margin. The arms were in fixed flexion with bilateral monodactyly. The single digits each had two flexion creases and a well-formed nail. Muscle tone and deep tendon reflexes were normal. An ophthalmologic examination was normal. The patient was alert, smiled, scooted in bed, and held her bottle surprisingly well. She had not yet rolled over, but presumably could not with fixed elbow contractions.

Radiographs showed a small bell-shaped chest with normal clavicles. There was a single straight forearm bone with a single metacarpal and two phalanges (Fig. 2). The tibiae and fibulae were normal. Cranial and abdominal ultrasound studies were normal. Complete blood count and platelet counts were normal. Chromosome analysis showed a normal 46,XX chromosome constitution, without apparent duplication of distal 3q. Electrocardiogram (ECG) showed a Type A Wolff-Parkinson-White pattern. Cardiac catheterization showed an ASD, a perimembranous VSD, and an additional trabecular muscular VSD.

Neither parent had a stiff fifth finger, and there were no bony abnormalities seen on X-ray examinations of their hands. The mother’s ECG was normal.

At age 5 months she underwent patch closure of the perimembranous VSD, and primary suture closure of the muscular VSD and ASD. Shortly after surgery she developed fever to 4OoC, refractory cardiac arrhythmias, and focal left-sided jerking. Despite intensive treatment, she died a day later.


At autopsy, bilateral pleural effusions showed extensive bacterial involvement but little leukocyte response. Cultures grew Pseudoltzonas aeruginosa. Diffuse necrotizing pneumonia was present in all lobes of the lung. Other autopsy findings included intact repairs of the membranous VSD, muscular VSD, and secundum ASD. There was biventricular hypertrophy, an anomalous right subclavian artery arising as a fourth-arch vessel, and a bifid cardiac apex. The pancreas was midline and had a two-lobe configuration. The spleen had increased lobulations but was otherwise normal. The thymus had mild lymphocytic depletion. There were ischemic changes in the brain but no malformations other than the previously described bony defects.

DISCUSSION

Congenital absence of the ulna is a rare defect. Birch-Jensen [1949] found only 1 case among 4 million Danes, although there were 18 cases of ulnar hypoplasia or absent ulnar rays in his series. Weyers [1957] attributes the first reports to Goeller in 1698 and Sommering in 1791, although the former’s patient also had bilateral fibular agenesis [Patterson, 19081. According to Kelikian [1974], in 1865 Priestly was the first to recognize the amputation as longitudinal rather than transverse. The first attempt to classify ulnar defects was by Kummel [1895]. A more practical categorization was proposed by Lausecker [ 19541. Our patient would fit his fourth category; namely absence of the ulna or ulnar digital rays, or both, with malformation of the radial digital rays.

Isolated case reports [Roth, 191 4; Goddu, 1930; Barsky, 195 1 ; Laurin and Farmer, 1959; Riordan, et al., 1961; Staub, 1965; Tachdjian, 1972; Kelikian, 19741 and series [Wierzejewski, 1910; Rabaud and Havelocque, 1924; Kanaval, 1932; O’Rahilly, 1951; Lausecker, 1954; Pardini, 1967; Carrol and Bowers, 19771 have dealt mostly with anatomic descriptions and reconstructive techniques. Associated isolated defects include diaphragmatic hernia [Watt, 19171, multiple exostosis [Patterson, 19081, lobster claw deformity of feet [Van den Berghe, et al., 19781, bifid thumb [Kajon, 19211, craniosynostosis [Calabro et al., 19851, and Klippel-Feil deformity [Chemke, et al., 19801. Case 187 of Birch-Jensen [ 19491 had absence of both fibular fifth rays, hypoplastic ulnar fifth rays, cleft palate, narrow chest, and large heart.

To date no familial cases of isolated ulnar defect has been reported. Familial occurrence of ulnar defects was claimed by Roberts [ 18861, although this was more clearly an autosomal dominant ulnar defect with split hand [Warkany, 1971; McKusick, 19861.

Several syndromes are associated with ulnar defects. Weyers [ 19571 described two unrelated children with ulnar aplasia/hypoplasia and oligodactyly. Case 1 was dwarfed, had hypoplastic distal clavicles, a single central maxillary incisor, and hypoplasia of the mandible. Case 2 had a left cleft lip and palate, “retrogression” of the fibular limbs, and renal and splenic abnormalities. Elejalde et al. [ 19851 reported two sibs with presumed Weyers syndrome. One had oligodactyly and deficient ulnae, adducted thumbs and first toes, a spleen depleted of lymphocytes, and a dilated right ureter. The other had markedly short ulnae and fibulae, with less severe shortening of the femur and tibiae; hydronephrosis; and no oligodactyly. No dwarfing is mentioned. At present there are too few patients to determine whether the basic defect of Weyers syndrome is ulnar deficiency and the other defects, familial variants.

Other syndromes with ulnar defects include mesomelic dwarfism of the hypoplastic ulna/fibula/mandible type [Brailsford, 1935; Blockey and Lawrie, 1963; Langer, 19671;


the stillborn sibs reported by de la Chapelle et al. [ 19721; and the femur, fibula, ulna complex [Zlotogora et al., 19831. These all have lower limb abnormalities not seen in our patient. A similar argument can be made for Boomerang bone disease [Reeves, 19661. The Sakati acrocephalopolysyndactyly syndrome has severe lower limb deficiencies. The original patient [Sakati, et al., 19711 had a large head size (OFC 58 cm at age 8 years).

The three sibs reported by Cantu et al. [1975] had intrauterine growth retardation (IUGR), relatively normal head sizes, retrognathia, complex congenital heart disease, and ulnar hypoplasia. They also had radial, fibular, and tibia1 hypoplasia, and their thumbs and fifth fingers were hypoplastic.

Cree Indians with the Ives Houston syndrome [Ives and Houston, 19801 have IUGR, ulnar deficiencies plus absent thumb, and abnormal to absent fifth finger. They have severe microcephaly, abnormal brain structure, and succumb early. Abnormalities of the thumb and fifth finger are seen in the WT syndrome [Gonzalez et al., 19771 but do not include ulnar defects or congenital heart disease. The sisters reported by Cortada, et al. [1982] had ulnar hypoplasia, but lacked IUGR and as older individuals had severe microcephaly (OFCs -4 SD).

The hypomelia, hypotrichosis, facial hemangioma syndrome [Hall and Greenberg, 19721 may include midfacial hemangioma, thin nares, downturned corners of the mouth, and retrognathia. Also seen are high nasal bridge, sparse hair, lower limb deficiency, and absent thumbs in 80% of cases [Hall and Greenberg, 19721, none of which our patient had. The Roberts syndrome [Freeman et al., 19741, with cleft palate and tetraphocomelia, can also be excluded.

The Schinzel syndrome includes ulnar ray defects, the most severe case reported unilateral absence of the ulna and digits 3-4-5 [Hecht and Scott, 19841. Neither of our patient’s parents showed minor manifestation of this syndrome, that is, no fifth finger stiffness, shortening, or hypoplasia of the ulnar styloid.

Although Hall et al. [1969] reported unilateral and bilateral ulnar absence in thrombocytopenia with absent radius, 100% of their cases had absent radii. Normal radii and platelet count make this syndrome unlikely in our patient.

Several authors have reviewed extracardiac anomalies associated with congenital heart defects [Wiland, 1955; Lin and Perloff, 1985; Boesin et al., 19631. The former two are not specific regarding ulnar defects. The latter review includes the Brachmann-de Lange syndrome (BDLS).

The history of BDLS is reviewed by McArthur and Edwards [ 19671. Preus and Rex [1983] published a weighted diagnostic index of 30 characteristics they felt best distinguished patients with BDLS. Our patient’s definite similarities included low birth weight, synophrys, downturned corners of the mouth, thin upper lip vermilion, absent third and fifth digits, and elbow contractures. A normal forehead, palpebral fissure lengths of - 1 SD, and normal muscle tone also gave slightly positive scores on their index. Dermatoglyphic patterns for the thumbs were not easily seen and not recorded. We also had to omit scores for other digit patterns and palm creases. Foot length was not recorded but was clinically judged not to be small. The chest was not measured with calipers but was also clinically judged not to be flat and wide, as is usually seen in BDLS [Wynne-Davies, et al., 1985; Silverman, 19851.

Definite negatively associated findings included an OFC larger than - 2 SD, along with no high eyebrows or flared nasal bones. Though the nasal tip was slightly full, the relatively small alae were not considered typical of BDLS, and the philtrum was not prominent or long. The ears were not posteriorly rotated, nor were the thumbs small. There


was also no short neck, club feet, cutis marmarata, increased muscle tone, or significant hirsuitism.

Using the scoring system and graph from Preus and Rex [1983], our patient’s score falls within the zone of doubt. She had no feeding problems typically seen in BDLS, never had the characteristic low growling cry, and at autopsy had no structural brain defects. Therefore we rejected the diagnosis of BDLS.

Some patients with duplication 3q have been reported to resemble the Brachmann- de Lange syndrome [Falek, et al., 1966; Allderdice, et al., 1975; Wilson, et al., 1978; Sciorra, et al., 19791. Subsequent authors [Francke, 1978; Gorlin, 19791 have compared and contrasted the two syndromes. Lack of IUGR and the rare occurrence of less severe limb defects separate the dup 3q patients from true Brachmann-de Lange patients [Beck and Mikkelsen, 198 1 1. These authors were unable to show a chromosome defect, except for an inherited 13;14 translocation and a mosaic 45,X/46,XY, in any of their 45 BDLS patients. Our patient’s chromosomes were normal. Chromosome analysis of fibroblasts performed at Baylor College of Medicine were also normal.

Rarely, the Holt-Oram syndrome has been associated with ulnar hypoplasia or aplasia [Smith, et al., 19791. Unfortunately, no mention of accompanying radial defects were made. Of interest is one patient reported as the upper limb cardiovascular (Holt-Oram) syndrome [DiBella et al., 1984; DiStefano, et al., 19851. This child had IUGR, a membranous VSD, patent ductus arteriosus, and unilateral ulnar agenesis with absence of digits 4 and 5. No further information is available regarding head size or face. This child probably represents one of the ill-defined hand-heart syndromes [Poznanski, 19741 and should not be included in the Holt-Oram syndrome. She was not recognized as BDLS and may represent a constellation similar to that seen in our patient.

Because of the history of arm and hand defects in the maternal great-great uncle, the parents’ hands were examined radiographically for subtle findings of the Holt-Oram syndrome. Using the criteria of Poznanski, et al., [ 19701, we could find no such changes in either parent.

Because Wolff-Parkinson-White is known to be transmitted as an autosomal dominant trait [Chia et al., 19821 we obtained an ECG on the patient’s mother. No conduction defects were present. Though we have not seen the father’s ECG, his history of having one in the military allows us to presume no conduction defects were found.

There are several theories offered in the medical literature to explain limb reduction defects. Studies cited by Poznanski [ 19741 indicate abnormal vasculature in the affected limb. Failure to form the appropriate arteries was postulated to occur after 48 days of gestation. Use of oral contraceptives has been linked to limb reduction deformities [Janerich et al., 19743. Our patient’s mother took birth control pills, but by her history, she stopped using them by 6 weeks after her LMP, or about 28 days of gestation. Though this timing corresponds with septation of the heart, we feel use of birth control pills does not explain the limb reduction defects or other stigmata seen in our patient.

McCredie [ 19761 offered an explanation for limb and visceral anomalies based on defects of specific “neurotomes” of neural crest origin. By her theory, monodactyly originates from subtraction of neurotomes C7 and C8, which also involve the heart. Considering the other findings in our patient, this subtraction would probably be genetic rather than environmental.

Our patient had a unique combination of pre- and postnatal growth retardation, complex congenital heart defects, bilateral monodactyly, ulnar agenesis, and peculiar face. A similar patient may have been reported earlier by DiBella [ 19841 and DiStefano [ 19851. This patient seems to represent a new MCA syndrome of unknown cause.


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An unusual cardiomelic syndrome