Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister's echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent's molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient's dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature.

Oculoauriculovertebral spectrum (OAVS) is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Oculo-auriculovertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microsomia appears to be an intermediate form. Here we report four cases with different phenotypic expressions. Case 1 had unilateral anotia with cardiac and urogenital abnormalities. Case 2 was an offspring of a diabetic mother, presenting with unilateral microtia, facial paralysis and sacral agenesis. Case 3 had unilateral anotia plus hemifacial microsomia and facial clefting accompanied to Hirsprung disease. Case 4 was presenting with microtia/preauricular tags plus hemifacial microsomia without accompanying any other system abnormalities. Two had a positive family history, one of them was represented an autosomal dominant (case 1), and the other was autosomal ressesive mode of inheritance (case 4). Based on these cases, we highlighted the heterogeneity of the presentation and genetic etiology of OAVS.

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Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presenting with left- sided ACF, thenar hypoplasia, and esophageal atresia. Ultrasonographic images of the volar surface of the left hand evidenced the absence of muscle tissue around the thenar prominence at the level of the first metacarpal bone. No pathogenic copy number variation was detected on array-comparative genomic hybridization analysis (CGH). The association of esophageal atresia, thenar hypoplasia, and ACF has not been reported before. We discuss the possibility of a distinct association or of a sequence of anomalies associated with ACF.