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OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
Am J Med Genet. 2000 Mar 13; 91(2):135-7.AJ

Abstract

We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.

Authors+Show Affiliations

Institute of Human Genetics, J.W. Goethe University Hospital, Frankfurt/Main, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10748413

Citation

Haug, K, et al. "OFD II, OFD VI, and Joubert Syndrome Manifestations in 2 Sibs." American Journal of Medical Genetics, vol. 91, no. 2, 2000, pp. 135-7.
Haug K, Khan S, Fuchs S, et al. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Am J Med Genet. 2000;91(2):135-7.
Haug, K., Khan, S., Fuchs, S., & König, R. (2000). OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. American Journal of Medical Genetics, 91(2), 135-7.
Haug K, et al. OFD II, OFD VI, and Joubert Syndrome Manifestations in 2 Sibs. Am J Med Genet. 2000 Mar 13;91(2):135-7. PubMed PMID: 10748413.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. AU - Haug,K, AU - Khan,S, AU - Fuchs,S, AU - König,R, PY - 2000/4/5/pubmed PY - 2000/4/29/medline PY - 2000/4/5/entrez SP - 135 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 91 IS - 2 N2 - We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10748413/OFD_II_OFD_VI_and_Joubert_syndrome_manifestations_in_2_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=91&issue=2&spage=135 DB - PRIME DP - Unbound Medicine ER -