We describe findings in a Japanese boy, an autopsy case of Toriello-Carey syndrome with endocardial fibroelastosis.
The patient, a boy, was the only child of a 25-year-old primigravid mother and a nonconsanguineous 33-yearold father. The pregnancy was complicated by threatened miscarriage at 8 weeks of gestation. The patient was born at 38 weeks of gestation. Apgar scores were 7 and 9 at 1 and 5 min, respectively. At birth, he weighed 2,373 g (-2.1 SD), his length was 45.0 cm (-2.6 SD), and OFC was 32.0 cm (-1.1 SD). The early neonatal period was complicated with poor sucking, hypocalcemia, and hyperbilirubinemia. Neonatal screening for inborn errors of metabolism and TORCH serology was negative. At age 1 month, he was hospitalized for cardiac failure, and dilated cardiomyopathy was suspected. Medication of diuretics and vasodilator was initiated in the follow-up observation.
At age 3 months, the patient was transferred to our hospital because of failure to thrive and then to our unit for genetic evaluation. His weight was 4,644 g (-2.7 SD), his length measured 58.1 cm (-1.5 SD), and OFC was 39.8 cm (-0.5 SD). He had several anomalies, including large anterior fontanelle, telecanthus, short palpebral fissures, sparse medial eyebrows, anteverted nares, high-arched palate, low-set ears, micrognathia, adducted thumbs, mild interdigital webbing of the hands, hypermobile proximal interphalangeal joints of the second-fifth fingers, hypermobile elbow and knee joints, fibularly deviated second and third toes, left pes varus, right pes calcaneovalgus, diastasis recti, and right inguinal herniation (Fig. ). His muscle tone was increased.