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46 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. ... possible.</html:p><html:p >The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ...
  4. ... syndrome w/acanthosis nigricans Isolated coronal synostosis (incl Muenke syndrome – ... Diagnosis Numerous forms of skeletal dysplasia with disproportionate limbs ...
  5. ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ... diagnosis of fetal achondroplasia combining ultrasonography and circulating cell- ...
  6. ... palpebral fissures Ptosis Ear ... person w/a presumed diagnosis of SCS. Isolated unilateral coronal synostosis (IUCS) 3, ...
  7. ... 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; ...
  8. ... 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: ...
  9. ... and learning problems are possible.The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv ...
  10. ... window Gene Disorder MOI Features of the Differential Diagnosis Disorder In common with "classic" Apert ... syndrome AD Craniosynostosis (unilateral or bilateral coronal) Mild ...
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