Table 2.

Rare Findings in Persons with Muenke Syndrome

Finding# of Persons
Osteochondroma2Barbosa et al [2009]
Talbot et al [2012]
Laterality disorder
Hepatoblastoma 1
1Baynam & Goldblatt [2010]
Generalized anxiety disorder
1Escobar et al [2009]
Autism1Honnebier et al [2008]
Pervasive developmental disorder
Esophageal atresia with tracheo-esophageal fistula
Atrial septal defect
Ventricular septal defect 2
1Escobar et al [2009]
Choanal atresia1Hughes et al [2001]
Scoliosis1Hughes et al [2001]
Sprengel shoulder
Klippel-Feil anomaly
Fused ribs
Short neck
Low posterior hairline
Paralytic strabismus
1Lowry et al [2001]
Distal tapering of the fingers1Lowry et al [2001]
Cutaneous syndactyly13Golla et al [1997]
Passos-Bueno et al [1999]
Chun et al [2002]
Trusen et al [2003]
Shah et al [2006]
Baynam & Goldblatt [2010]
de Jong et al [2011a]
Breast cancer2Hughes et al [2001]
Sahlin et al [2007]
Pituitary adenoma1Sahlin et al [2009]
Sudden infant death1Shah et al [2006]
Absent right auditory meatus1Shah et al [2006]
Structural brain anomalies 33Grosso et al [2003]
Escobar et al [2009]
Yu et al [2010]
Agochukwu et al [2012b]
Hypoplasia of the frontal sinus1de Jong et al [2011a]
Ptosis of upper eyelids2de Jong et al [2011a]
Dysplastic elbow joints1de Jong et al [2011a]
Fusion of the cervical vertebrae1de Jong et al [2011a]
Ankylosis of the elbow1de Jong et al [2011a]
Epilepsy13Grosso et al [2003]
de Jong et al [2011a]
Ridgway et al [2011]
Agochukwu et al [2012a]

This pregnancy was complicated by maternal IDDM; father had the defining Muenke syndrome pathogenic variant.


This pregnancy was complicated by maternal use of nortriptyline.


Structural anomalies found include: hippocampus and bilateral medial temporal dysgenesis in one person [Grosso et al 2003], bilateral lateral ventricular dilatation and a small cerebellum in one person [Yu et al 2010], and porencephalic cyst of the occipital horn of left ventricle and absence of the corpus callosum in one person [Escobar et al 2009]. Of note, the individual reported in Grosso et al [2003] was described as developmentally normal.

From: Muenke Syndrome

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