Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Cormier‐Daire, Valérie; Chauvet, M. L.; Lyonnet, Stanislas; Briard, Marie-Louise; Münnich, Arnold; Merrer, Martine Le

doi:10.1136/jmg.37.7.520

Cited by 69 publications

(80 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Thereafter, eight other male, three female patients, and two affected male fetuses have been reported [Cormier-Daire et al, 2000;Armstrong and Clarke, 2002;Lammer et al, 2002;Reardon, 2002;Lifchez et al, 2003;Abdul-Rahman et al, 2006]. All patients had microcephaly, a broad nose, a small or retracted chin, flexion contractures of lower limbs, abnormal or missing patellae, and urogenital anomalies.…”

Section: Introductionmentioning

confidence: 96%

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

Penttinen

Koillinen

Niinikoski

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Genitopatellar syndrome (GPS) is a rare disorder with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation. Twelve patients with ages from 15 days to 12 years and two affected fetuses have been reported. We describe a 17-year-old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manifestations of GPS.

show abstract

Section: Introductionmentioning

confidence: 96%

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

Penttinen

Koillinen

Niinikoski

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…• Cormier-Daire et al 1 recently highlighted the association of mental retardation, dysmorphic features, genital and renal anomalies, and abnormal patellae. They proposed a new, probably autosomal recessive, "genitopatellar syndrome".…”

Section: Key Pointsmentioning

confidence: 99%

“…I n a recent paper, Cormier-Daire et al 1 proposed a new condition, "genitopatellar syndrome". They highlighted the association of abnormal patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (including two sets of sibs), and in a child previously reported by Goldblatt et al 2 They suggested probable autosomal recessive inheritance and attributed the observed predominance of males among reported patients to the easier recognition of genital abnormalities in males.…”

mentioning

confidence: 99%

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature

Armstrong

2002

Journal of Medical Genetics

View full text Add to dashboard Cite

“…Genetic factors could be related to the callosal development, because several familial syndromes with callosal agenesis have been reported. [16][17][18] We have not examined any genetic information of the patient, and neuroimaging examination of her elder sister, who was diagnosed with schizophrenia at the age of 24, was refused. Schizophrenic patients with a positive family history of schizophrenia showed significant reduction of the subregion of the corpus c a l l o~u m .~~) Even though both the callosal agenesis and volumetric reduction are regarded as developmental disorders, pathogenesis of them seems to be heterogeneous and it is necessary to consider the acquired factors in the present case.…”

Section: Discussionmentioning

confidence: 99%

Late‐onset Psychosis with Agenesis of the Corpus Callosum

et al. 2002

View full text Add to dashboard Cite

Abstract:A 57-year-old woman showing her first psychiatric episode was admitted and MRI revealed agenesis of the corpus callosum with a lipoma. Except for the fact that her elder sister had been diagnosed with schizophrenia at the age of 24, she had no special anamnesis or problems in her life history. At the age of 57, troublesome behavior based on auditory hallucinations and delusions of persecution were noted which made it necessary for her to be taken to a hospital. There were no clinical signs of dementia, pathological reflexes or any other malfunctions. The brain MRI showed complete defect of the corpus callosum with a lipoma at the anterior midline region. According to characteristic findings of agenesis of the corpus callosum, parallel lateral ventricles, colpocephaly, and upward extension of the third ventricle were also noted. There were no findings of vascular change or cortical atrophy. Electroencephalography showed sharp waves and spikes appearing frequently in the parietal and occipital lobes. After being hospitalized, anti-psychotic drugs were effective against the symptoms which made it possible for her to be discharged after 8 weeks. She returned to her normal daily life and within 12 months there had been no signs of relapse and no considerable changes in MRI either. Although there have been many reports on schizophrenic patients with volumetric reduction of the corpus callosum, late-onset psychosis with callosal agenesis is quite rare. Neuroimaging investigations for lateonset psychosis are valuable to detect structural deficits or damages, and further cell-biological studies on commissural white matter are required to understand the correlations in pathogenesis between developmental failure and acquired brain damage.

show abstract

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Cited by 69 publications

References 10 publications

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature

Late‐onset Psychosis with Agenesis of the Corpus Callosum

Contact Info

Product

Resources

About