What Syndrome Is This?

Abstract

CASE REPORTThis boy was the 39-week product of an uncomplicated pregnancy and had no significant family history. At birth, he weighed 2.6 kg, his length was 45 cm, head circumference was 31 cm, and Apgar scores 2 to 6. There was meconium fluid present. During the neonatal period he had subcutaneous fat necrosis, confirmed by skin biopsy specimen findings, and hypercalcemia. These lesions spontaneously resolved, leaving areas of lipoatrophy.On follow-up, dysmorphic features consisting of a small head, peculiar facies, frontal bossing, micrognathia, broad nasal bridge, low-set ears, short palpebral fissures, and blepharophimosis were seen (Figs. 1 and 2). His voice was high pitched, and a thick lingual frenulum was observed. On skin examination he demonstrated keratosis pilaris, eczema on the trunk and extremities, sparse scalp hair, and two keloidal axillary lesions.The following investigations had normal results: electroencephalogram, cerebral computed axial tomography, echocardiography, electrocardiogram, chest radiograph, kidney echography, and ophthalmologic examination. Growth retardation was detected, as well as a delay in psychomotor development and behavior problems. Karyotype was normal.During this time he had several respiratory infections that required hospital admission. A low level of IgG (240 mg/dL) was detected.

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

“…Micrognathia, a receding chin that results in an underbite, was present in 85 of the cases [5, 16-19]. The hair and the eyebrows are thin and sparse [5, 10, 16, 18, 19]. Facial asymmetry or abnormal neck has been reported, but occurs in less than ten percent of cases [5].…”

“…The ears vary in size, but are usually more prominently positioned. Ears are low set [5, 19] and can be posteriorly angulated [5]. In 41 cases, dysplastic (poorly-formed) ears exist [10].…”

“…Epicanthal folds are excessive and cover the inner corner of the eye [5, 18]. Twenty five percent of the cases report abnormal palperbral fissures [5, 17, 19] (narrow longitudinal opening above the eyelids). Fifteen percent noted telecanthus [5, 17, 18] (increased distance between the inside corner of the eye to the nose) or hypertelorism [5, 16].…”

“…In the majority of patients, there are problems related to language development and speech [3, 5, 10, 15, 20, 24, 26]. A high pitched voice, which is common to the disorder was found in 39 cases [5-7, 19, 26, 27]. High pitched or hoarse voice [22] can be characterized as a voice disorder.…”

“…Development of speech was delayed in 20% of cases [3, 5, 10, 15, 20, 26]. It is important to correctly identify any communication difficulties and get treatment started as soon as possible to prevent other learning or developmental problems [19, 27]. …”