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Frontonasal dysostosis, retarded growth, and mental development. Brachycephaly, broad notched nasal tip, cleft lip/palate, and macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal phalanges of the hands. Iliac hypoplasia, short legs, and hypospadias.

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  • Type I: Postaxial Polysyndactyly, Frontonasal Dysostosis, and Cleft Lip/Palate; Cleft Lip/Palate with Frontonasal Dysostosis and Postaxial Polysyndactyly.
  • Type II: Naguib-Richieri-Costa Syndrome; Richieri-Costa-Montagnoli Syndrome; Hypertelorism, Hypospadias, and Polysyndactyly Syndrome.

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The term dysostosis refers to a defect in the ossification process, which results in malformations of individual bones arising either isolated or multiple. Some patients also exhibit axial involution. The dysostosis predominantly involves the extremities. The most common forms are syndactyly or polydactyly, which may occur in combination with craniofacial or other abnormalities. Two types of this syndrome, each including only a small number of patients, have been described.

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Extremely rare congenital abnormality described in fewer than 10 patients of both sexes.

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An autosomal recessive trait has been suggested, although insufficient genetic background information or molecular data are available. However, normal chromosomes, parental consanguinity, and familial occurrence suggest an autosomal recessive inheritance is possible.

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Unknown.

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At birth, the diagnosis is suspected based on the clinical aspect characterized by facial and other anomalies: hypertelorism, eye anomalies, broad notched nasal tip, cleft lip/palate, camptodactyly, brachydactyly, and polysyndactyly of fingers and toes, anomalies of the feet, and hypospadias. Severe mental retardation is common.

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  • Acrofrontofacionasal dysostosis I: Mental retardation, short stature, hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly affecting fingers and toes, fibular hypoplasia, and anomalies of the foot structure are the most common findings.
  • Acrofrontofacionasal dysostosis II: Hypertelorism, proptosis, ptosis, wide forehead, microbrachycephaly, broad nose with midline groove, hypospadias, syndactyly of the fingers, and broad thumbs and halluces.

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Obtain a thorough and careful examination for associated abnormalities of the heart (echocardiography) and kidneys (blood work, ultrasound). The patient's mental and neurologic status must be assessed to determine a thoughtful approach to premedication and induction. Evaluate for difficult airway and venous access.

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There are no published data concerning anesthetic or pharmacological implications in this syndrome. Use of regional anesthesia and analgesia provides a reasonable alternative whenever applicable in these children. Proptosis makes the eyes vulnerable to injuries, so good protection and lubrification intraoperatively are recommended.

Richieri-Costa A, Colletto G, Gollop TR, et al: A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with frontonasal dysostosis, cleft lip/palate, limb hypoplasia and postaxial polysyndactyly; acro-fronto-facio-nasal dysostosis syndrome. Am J Genet 20:631, 1985.  [PubMed: 2986457]
Naguib KK: Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: A new syndrome? Am J Med Genet 29:35, 1988.  [PubMed: 2830788]
Teebi AS: Naguib-Richieri-Costa syndrome: Hypertelorism, hypospadias, and polysyndactyly syndrome [letter]. Am J Med Genet 44:115, 1992.  [PubMed: 1325738]

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