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Summary: A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype: Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.
Key-words: Keutel syndrome - Binder phenotype - Midfacial hypoplasia - Calcifications.
INTRODUCTION
Keutel syndrome is a rare autosomal recessive disorder, first described by Keutel et al. (3), characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Less than 100 cases have been reported in several countries and Turkey (4, 5, 7, 10). Binder profile (BP), first described by Binder (1), is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a newborn with Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency.
CASE REPORT
A female newborn was born at gestational week 37 with caesarean section. Birth weight was 2420 gr, occipitofrontal head circumference (OFC) 32 cm. Apgar scores were 7, 9 after 1 and 5 minutes, respectively. The following anomalies were noted: dysmorphic facial appearance (broad depressed nasal bridge, midfacial hypoplasia, defective nasal septum, small alae nasi, low-set ears, stiff auricles, anteverted nostrils, retrognatia, gingival hyperplasia, high arched palate), short trunk, 2/6 grade heart murmur, broad and short distal phalanges, short nails and hypoplastic fingertip pads, simian line at the right hand and bilateral pes planus (Fig. la-c). The most striking feature of the patient was nasal hypoplasia which was the cause of respiratory insufficiency and feeding intolerance (Fig. 2). History revealed that she was a fourth child of nonconsanguinous parents. The mother was 42 years old and had no history of miscarriages and did...