Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow-up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype. Development delay and mental retardation was noted in 18% of the reported cases. Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical differences were identified among those individuals with different inheritance patterns. Male to male transmission was reported in one family. Parental age does not appear to be a factor in the cause of this syndrome.
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PMID:Robinow syndrome: report of two patients and review of literature. 354 67

The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array-CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32. The deleted region includes, among others, the ROR2 and PTCH genes. Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of ROR2 may contribute to pulmonary valve stenosis. Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features.
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PMID:A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 1763 81

Dysmorphology is the study of congenital malformations and anatomic variations of the individuals. Up to 2500 dysmorphic or malformative syndromes are described, most of them being characterized by mental retardation. Craniofacial dysmorphology may be the keystone of syndrome identification, although limb anomalies are sometimes important diagnostic clues. The advances of fetal imaging, particularly the development of 3D ultrasound techniques, allow a detailed analysis of the fetal face. Dysmorphology requires experience of rare syndromes and a perfect knowledge of normal facial appearance and variations. In utero, this approach must combine the skills of both a practitioner with expertise in fetal ultrasound and a pediatric dysmorphologist. Furthermore, facial changes have to be analyzed according to the context of the pregnancy and family history. Identification of patent facial anomalies may be a clue for the diagnosis of severe fetal syndromes and diseases. Conversely, when fetal malformations or abnomalities of the fetal growth are identified, a careful facial analysis can be proposed in order to rule out well-known syndromes with a poor prognosis. However, from an ethical point of view, parents should not be aware of a possible facial dysmorphism unless there is a precise diagnosis and options concerning the pregnancy.
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PMID:[Fetal dysmorphology: a practical approach in utero]. 2105 Jul 92