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1.
Klin Monbl Augenheilkd ; 232(3): 259-65, 2015 Mar.
Article in German | MEDLINE | ID: mdl-25654236

ABSTRACT

If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or homocystinuria. Also other connective tissue disorders convey an elevated risk for ectopia lentis. Isolated ectopia lentis is frequently caused by genetic alterations as well, most commonly due to mutations in ADAMTSL4. Depending on the molecular basis, the consequences for the management of patients may differ significantly: On the one hand, possible accompanying symptoms may require a specific surveillance and treatment. Also, the risk for other family members to develop ectopia lentis or accompanying symptoms can only be determined if the genetic cause and thus inheritance pattern are known. This review describes the different types and genetic causes of syndromal and isolated ectopia lentis as well as possible consequences for the patients; also it presents a sensible algorithm for the molecular diagnostic approach.


Subject(s)
Algorithms , Ectopia Lentis/diagnosis , Ectopia Lentis/genetics , Genetic Testing/methods , Molecular Diagnostic Techniques/methods , ADAMTS Proteins , DNA Mutational Analysis/methods , Diagnosis, Differential , Genetic Markers/genetics , Genetic Predisposition to Disease/genetics , Humans , Mutation , Polymorphism, Single Nucleotide/genetics , Thrombospondins/genetics
2.
Fortschr Neurol Psychiatr ; 81(6): 337-45, 2013 Jun.
Article in German | MEDLINE | ID: mdl-23612984

ABSTRACT

We report upon a case of a 55 year old patient with a bipolar affective disorder, presenting herself with a depressive symptomatology in addition to a severe motor perturbation. The main emphasis upon admittance was perfecting and improving her latest medication. Four weeks prior to her stay at our clinic a thorough neurological examination had taken place in terms of an invalidity pension trial which did not result in any diagnostic findings. Therefore a neurological disease seemed at first highly unlikely. Even though the prior testing was negative, the ensuing neurological examination at our clinic resulted in movement disorders very much indicative of Huntington's Disease. A detailed investigation in regards to the particular family history of the patient was positive for Huntington's Disease. However, whether the patient's mother had also been a genetic carrier of Huntington's Disease was still unknown at the time the patient was admitted to our clinic. It was nevertheless discovered that her mother had also suffered from a bipolar affective disorder. A genetic testing that followed the neurological examination of the patient proved positive for Huntington's Disease. Neuro-imaging resulted in a bicaudate-index of 2.4 (the critical value is 1.8). In a clinical psychological test battery the ensuing results were highly uncommon for patients with solely a bipolar affective disorder people. Under the medical regimen of Quetiapine, Citalopram and Tiaprid the patient's mood could be stabilized and there was some improvement of her motor pertubation.


Subject(s)
Bipolar Disorder/complications , Huntington Disease/complications , Antidepressive Agents/therapeutic use , Antipsychotic Agents/therapeutic use , Bipolar Disorder/diagnosis , Bipolar Disorder/psychology , Citalopram/therapeutic use , Dibenzothiazepines/therapeutic use , Female , Genetic Testing , Heterozygote , Humans , Huntington Disease/diagnosis , Huntington Disease/psychology , Magnetic Resonance Imaging , Middle Aged , Movement Disorders/etiology , Movement Disorders/therapy , Neurologic Examination , Neuropsychological Tests , Pedigree , Positron-Emission Tomography , Quetiapine Fumarate , Tiapride Hydrochloride/therapeutic use
3.
Eur J Med Genet ; 55(6-7): 423-8, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22469822

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.


Subject(s)
Abnormalities, Multiple/diagnosis , Craniofacial Abnormalities/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Intellectual Disability/diagnosis , Joint Instability/diagnosis , Trisomy/diagnosis , Abnormalities, Multiple/genetics , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 11/genetics , Chromosomes, Human, Pair 9/genetics , Comparative Genomic Hybridization , Consanguinity , Craniofacial Abnormalities/genetics , DNA Copy Number Variations , Foot Deformities, Congenital/genetics , Genetic Association Studies , Hand Deformities, Congenital/genetics , Humans , Intellectual Disability/genetics , Joint Instability/genetics , Male , Trisomy/genetics
4.
Am J Med Genet A ; 155A(9): 2060-5, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21834043

ABSTRACT

We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy.


Subject(s)
Abnormalities, Multiple , Chromosome Disorders/genetics , Learning Disabilities , Adult , Blepharoptosis , Child, Preschool , Cleft Palate , Craniofacial Abnormalities , Ear/abnormalities , Eye Abnormalities , Face/abnormalities , Female , Hearing Loss , Heart Defects, Congenital , Humans , Infant , Male , Middle Aged , Syndrome
5.
Am J Med Genet A ; 155A(8): 1981-6, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21744487

ABSTRACT

Subtelomeric deletions of chromosome 6q may result in a syndrome with brain malformations, comprising hydrocephalus and hypoplasia of the corpus callosum. Aplasia of the olfactory bulbs (OB) or anosmia has not been described in this syndrome. We describe a 3-year-old girl and a 25-year-old man with subtelomere 6q deletions. Both patients had aplastic OB and hydrocephalus. Subtelomeric 6q deletions might be underdiagnosed as anosmia can be the only symptom.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6/genetics , Olfaction Disorders/genetics , Olfactory Bulb/abnormalities , Abnormalities, Multiple/diagnosis , Adult , Agenesis of Corpus Callosum , Child, Preschool , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Female , Humans , Hydrocephalus/diagnosis , Hydrocephalus/genetics , In Situ Hybridization, Fluorescence , Karyotyping , Male , Olfaction Disorders/diagnosis , Syndrome
6.
Neuropediatrics ; 40(1): 43-6, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19639528

ABSTRACT

Pontine tegmental cap dysplasia (PTCD) is a newly described hindbrain malformation with distinct neuroradiological findings. Only 12 cases of PTCD have been described so far, all sporadic. We report 2 further patients. Both children presented after birth with significant feeding problems due to impaired mouth opening (previously not reported) and sucking difficulties. Facial, cochlear, and glossopharyngeal nerves were involved resulting in bilateral sensory deafness and a significant swallowing disorder requiring a gastrostomy. In one patient the trigeminal sensory nerve was also involved causing severe bilateral corneal clouding with impaired vision. Both patients showed only minimal developmental progress since birth and had no speech production. Furthermore, they had vertebral and rib anomalies. The patients died at the age of 15 and 32 months, respectively, due to intercurrent infections. The majority of patients reported previously were affected less severely. The presented patients may represent the severe end of the spectrum.


Subject(s)
Abnormalities, Multiple/pathology , Hyperplasia/pathology , Pons/abnormalities , Pons/pathology , Trigeminal Nerve/abnormalities , Child, Preschool , Deafness/pathology , Female , Humans , Hyperplasia/complications , Infant , Intellectual Disability/pathology , Magnetic Resonance Imaging/methods , Trigeminal Nerve/pathology
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