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A further patient with van Maldergem syndrome.
Eur J Med Genet. 2012 Jun; 55(6-7):423-8.EJ

Abstract

We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. His parents are first cousins. At the age of 4 years the boy presented with severe developmental delay, talipes equinovarus, finger camptodactyly with interphalangeal pterygium, joint laxity, bilateral microtia, and a dysmorphic facies. He showed bilateral epicanthus, telecanthus, short palpebral fissures, broad flat nasal bridge, and dental malocclusion. The combination of the specific facial features with camptodactyly, interphalangeal pterygium, joint laxity and developmental delay led to the diagnosis of van Maldergem syndrome. The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism). Due to severe feeding difficulties permanent tube feeding was required. Metabolic tests (newborn metabolic screening, 7-dehydrocholesterol, amino acids, organic acids in urine) and chromosomal analysis (450-500 bands; 46,XY) were normal. Molecular karyotyping revealed two parental CNVs (paternal deletion of 9q33.1; maternal duplication of 11p15.1), which are unlikely to contribute to the patient's phenotype. Taken together, the report on a further patient with van Maldergem syndrome expands the clinical spectrum of the condition by adding genital malformations, hernia, pharyngeal instability, and subluxation of the hip.

Authors+Show Affiliations

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. neuhann@mgz-muenchen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22469822

Citation

Neuhann, T M., et al. "A Further Patient With Van Maldergem Syndrome." European Journal of Medical Genetics, vol. 55, no. 6-7, 2012, pp. 423-8.
Neuhann TM, Müller D, Hackmann K, et al. A further patient with van Maldergem syndrome. Eur J Med Genet. 2012;55(6-7):423-8.
Neuhann, T. M., Müller, D., Hackmann, K., Holzinger, S., Schrock, E., & Di Donato, N. (2012). A further patient with van Maldergem syndrome. European Journal of Medical Genetics, 55(6-7), 423-8. https://doi.org/10.1016/j.ejmg.2012.02.012
Neuhann TM, et al. A Further Patient With Van Maldergem Syndrome. Eur J Med Genet. 2012;55(6-7):423-8. PubMed PMID: 22469822.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A further patient with van Maldergem syndrome. AU - Neuhann,T M, AU - Müller,D, AU - Hackmann,K, AU - Holzinger,S, AU - Schrock,E, AU - Di Donato,N, Y1 - 2012/03/13/ PY - 2011/12/14/received PY - 2012/02/27/accepted PY - 2012/4/4/entrez PY - 2012/4/4/pubmed PY - 2012/10/10/medline SP - 423 EP - 8 JF - European journal of medical genetics JO - Eur J Med Genet VL - 55 IS - 6-7 N2 - We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. His parents are first cousins. At the age of 4 years the boy presented with severe developmental delay, talipes equinovarus, finger camptodactyly with interphalangeal pterygium, joint laxity, bilateral microtia, and a dysmorphic facies. He showed bilateral epicanthus, telecanthus, short palpebral fissures, broad flat nasal bridge, and dental malocclusion. The combination of the specific facial features with camptodactyly, interphalangeal pterygium, joint laxity and developmental delay led to the diagnosis of van Maldergem syndrome. The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism). Due to severe feeding difficulties permanent tube feeding was required. Metabolic tests (newborn metabolic screening, 7-dehydrocholesterol, amino acids, organic acids in urine) and chromosomal analysis (450-500 bands; 46,XY) were normal. Molecular karyotyping revealed two parental CNVs (paternal deletion of 9q33.1; maternal duplication of 11p15.1), which are unlikely to contribute to the patient's phenotype. Taken together, the report on a further patient with van Maldergem syndrome expands the clinical spectrum of the condition by adding genital malformations, hernia, pharyngeal instability, and subluxation of the hip. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/22469822/A_further_patient_with_van_Maldergem_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(12)00081-X DB - PRIME DP - Unbound Medicine ER -