Pfeiffer syndrome or Saethre-Chotzen syndrome?
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- Tsukahara, M., Hagiwara, K. & Kajii, T. Jap J Human Genet (1985) 30: 51. doi:10.1007/BF01873577
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A 4.5-year-old girl with clinical features of both the Pfeiffer and Saethre-Chotzen syndromes is described. She was severely mentally retarded, had brachycephaly, craniosynostosis, prominent forehead, proptosis, midface hypoplasia, low-set and small ears, a high arched palate, broad thumbs and great toes, short phalanges of the third toes, and soft tissue syndactyly between the second and third fingers and between the second and third toes. In addition, she showed several clinical features characteristic of the Saethre-Chotzen syndrome, including a low-set frontal hairline, mild ptosis, a deviated nasal septum, and a cleft soft palate. Thus, the disease in the patient may represent a transitional form between the Pfeiffer and Saethre-Chotzen syndromes. Her father and paternal grandmother each had a few clinical features of the disease, indicating that the disease was inherited in an autosomal dominant fashion.