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Review
. 2018 Oct;35(5):437-441.
doi: 10.5114/pdia.2017.70330. Epub 2018 Jul 19.

Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes

Rafał Pokrowiecki  1 , Piotr Chomik  1 , Maciej Borowiec  1 , Krzysztof Dowgierd  1 , Anna Starzyńska  2
Affiliations
Review

Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes

Rafał Pokrowiecki et al. Postepy Dermatol Alergol. 2018 Oct.

Abstract

Noonan, Costello and LEOPARD syndromes belong to a family of cardiofaciocutaneous disorders and share common genetic traits. As they are associated with a germline mutation in genes encoding proteins involved in RAS/MAPK, patients suffering from these syndromes are at a greater risk of cancer and abnormal myelopoiesis in infancy. Patients with cardio faciocutaneous syndromes share some clinically overlapping syndromes, therefore differential diagnosis can be problematic. In this paper we aim at demonstrating distinctive craniofacial and cutaneous manifestations of Noonan, Costello and LEOPARD syndromes which can be useful for clinicians who aim at treatment of children with rare diseases.

Keywords: Costello; LEOPARD; Noonan; craniofacial; cutaneous.

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Figures

Figure 1
Figure 1
Emotionless face of the patient with Noonan syndrome
Figure 2
Figure 2
Crowding of teeth and malocclusion in the patient with Noonan syndrome
See this image and copyright information in PMC

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