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68 results
  1. ... family member, prenatal and preimplantation genetic testing for Muenke syndrome are possible. Diagnosis Suggestive Findings Muenke syndrome should be suspected in ...
  2. ... are recommended. Note: For recommended evaluations following initial diagnosis of Muenke syndrome, see Muenke Syndrome . Table 4. Recommended Evaluations Following ...
  3. ... and learning problems are possible. The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ... Catalog of Genes and Diseases from OMIM MUENKE SYNDROME; MNKES ... M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv ...
  4. ... possible.</html:p><html:p >The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ...
  5. ... the FGFR3 gene has been shown to cause Muenke syndrome, which is a condition that causes craniosynostosis and leads to a misshapen head and distinctive facial features. Additional signs and symptoms can include hearing loss, subtle hand and foot ...
  6. ... syndrome w/acanthosis nigricans Isolated coronal synostosis (incl Muenke syndrome – ... Diagnosis Numerous forms of skeletal dysplasia with disproportionate limbs ...
  7. ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ... diagnosis of fetal achondroplasia combining ultrasonography and circulating cell- ...
  8. ... palpebral fissures Ptosis Ear ... person w/a presumed diagnosis of SCS. Isolated unilateral coronal synostosis (IUCS) 3, ...
  9. ... Kousa YA, du Plessis AJ, Vezina G. Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. ... P, Muenke M. Syndromes associated with holoprosencephaly. Am J Med Genet. 2018; ...
  10. ... 23042628 ] Waye JS, Eng B, Nowaczyk MJ. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Prenat Diagn. 2007;27:638–40. [ PubMed : 17441222 ] Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: ...
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