An unusual cardiomelic syndrome

Abstract

The case reported by Stratton et al. [1988] as "an unusual cardiomelic syndrome" reminded us of a similar patient that we have followed from birth to the age of 3%2 years. We had initially considered ours to be provisionally unique but eventually settled on a diagnosis of the Brachmann-de Lange syndrome.Our patient ( Fig. 1) had very similar defects, including absent ulnae and congenital heart defect (tetralogy ofFallot). His birth weight after a normal 38 week gestation was 2,880 g, length 43 cm, and OFC 34.5 cm. He had bilateral ptosis, strabismus, micrognathia, cleft palate, flexion contractures of both elbows, and cryptorchidism. Angiography showed a left superior vena cava draining into the coronary sinus. At 6 months his OFC was 40.5 cm ( -2 SD) and at 36!12 years it was 46 cm (about -3.5 SD). He had gross developmental delay which had not been suspected during the early months. A gastrostomy was done a t age 2.5 months because of feeding problems and repair of his tetralogy was done at age 35/iz years. His length was 84.5 cm (<5th centile). He developed empyema and died on the 32nd postoperative day.Our case illustrates that a normal head circumference and apparently normal developmental status at 3 months of age are not reliable criteria for exclusion of the de Lange syndrome. REFERENCES

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: A new inherited MCA syndrome?

“…According to Bowen [1990], the Brachmann-Delange syndrome cannot be excluded in the patient of Stratton et al [19881. Clinical and ECG findings in our patients are different from those described in the conditions listed on Table 11. …”