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Cloverleaf skull anomaly and de novo trisomy 4p
  1. D DE BRASI,
  2. L PERONE,
  3. P DI MICCO,
  4. G ANDRIA,
  5. G SEBASTIO
  1. Dipartimento di Pediatria, Università “Federico II”, Via S Pansini 5, I-80131 Naples, Italy
  2. Divisione di Patologia Neonatale, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy
  3. Divisione di Neurochirurgia, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy
    1. E IACCARINO,
    2. L PINTO
    1. Dipartimento di Pediatria, Università “Federico II”, Via S Pansini 5, I-80131 Naples, Italy
    2. Divisione di Patologia Neonatale, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy
    3. Divisione di Neurochirurgia, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy
      1. F ALIBERTI
      1. Dipartimento di Pediatria, Università “Federico II”, Via S Pansini 5, I-80131 Naples, Italy
      2. Divisione di Patologia Neonatale, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy
      3. Divisione di Neurochirurgia, Azienda Ospedaliera “Santobono-Pausilipon”, Naples, Italy

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        Editor—Cloverleaf skull deformity (CS, Kleeblattschaedel, MIM 148800) is a severe form of craniosynostosis rarely associated with chromosomal aberrations.1 2Recently we observed a newborn male presenting with multiple congenital anomalies including a cloverleaf skull and a de novo partial 4p trisomy. He was a 12 day old male, born at 35 weeks of gestation to healthy, non-consanguineous parents. Respiratory distress was present at birth. At 12 days, his weight was 2650 g (5th centile), length 45 cm (<5th centile), and head circumference 30.5 cm (<<5th centile). On clinical evaluation, multiple congenital anomalies were observed, including cloverleaf skull, orbital hypoplasia with proptosis, hypertelorism, right iris coloboma, depressed nasal bridge, anteverted nostrils, low set ears, wide superior alveolar ridge, and pointed chin. Furthermore, inverted nipples, camptodactyly of the hands, club feet, overlapping toes, shawl scrotum, cryptorchidism, and generalised hypertonia were noted. Skeletalx rays showed vertebral anomalies, including hypoplasia of the 5th cervical vertebra, the presence of hemivertebrae of the lumbar spine, and eleven ribs bilaterally. Echocardiography showed a mild atrial septal defect and PDA. Cranial 3D CT scan (fig 1) showed protruding temporal bones and fusion of the coronal, lambdoidal, and temporoparietal sutures with temporoparietal bone ridges. The craniosynostosis partially spared the sagittal and metopic sutures. MRI showed asymmetrically enlarged temporal horns and a hypoplastic corpus …

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