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Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
Dubowitz syndrome is characterized by prenatal growth deficiency, mental retardation, microcephaly, short palpebral fissures, and ptosis, which can be suggestive of FAS. However, patients with Dubowitz syndrome can also manifest an eczema-like skin eruption, limb anomalies, cryptorchidism, and ocular abnormalities. This condition is inherited in an autosomal recessive fashion. The etiology of this condition is currently unknown (11).
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis: other diseases characterised by significant IUGR and prenatal onset microcephaly include MOPD type 2: relatively proportionate head size at birth, postnatal progression to severe microcephaly, progressive skeletal dysplasia, dislocated joints, characteristic facies, dysplastic or missing dentition. No brain abnormalities, but a proportion can show cerebral aneurysms and Moya Moya disease. Patients display a sociable personality and a high squeaky voice. Autosomal recessive, mutations in PCNT2 have been identified. Seckel syndrome: proportionate prenatal onset dwarfism, absence of skeletal dysplasia. Patients develop severe developmental delay and sometimes haematological abnormalities. Autosomal recessive, genetically heterogeneous, three loci identified, SCKL1 is caused by mutations in the gene ATR. Fetal alcohol syndrome: the more severe cases can show intrauterine growth retardation, microcephaly, cardiac abnormalities (septal defects, tetralogy of Fallot), brain abnormalities (microcephaly, agenesis of corpus callosum, cavum septum pellucidum, ventriculomegaly). Facial features are very typical and include short palpebral fissures, smooth and underdeveloped philtrum with a thin upper lip. Epiphyseal stippling has been reported, as well as short distal phalanges and transverse limb defects. Dubowitz syndrome: typical facial features, which consist of telecanthus, ptosis, blepharophimosis, prominent epicanthic folds, broad nasal tip, micrognathia. Ears are often dysplastic; occasionally cleft palate. Other particular features include sparse hair and eczema on the face and flexural areas.
Hysterectomy via vaginal Natural Orifice Transluminal Endoscopic Surgery in virgin patients: a first feasibility study
Published in Journal of Obstetrics and Gynaecology, 2022
Katrien Nulens, Ralph Kempenaers, Jan Baekelandt
This case series represents a rather young patient population (median age 39 years). Only one women was older than 45 years of age. The two youngest patients were only 30. Mental retardation was present in four out of nine cases. One patient had Dubowitz syndrome, a autosomal recessive disorder characterised by intrauterine and postnatal growth retardation, microcephaly with mild to severe cognitive impairment, facial dysmorphia, eczema and increased risk for malignancy (Innes et al. 2018). There was one young women with trisomy 21. Two other patients had mild to moderate mental retardation in combination with a neuropsychiatric disorder (autism and epilepsy in case number 3, psychosis and behavioural disorder in case number 8). In six patients, hysterectomy was indicated because of severe menorrhagia resistant to hormonal treatment. Proposing a hysterectomy to young, nulliparous women requires a comprehensive informed consent about the indications, evident consequences on fertility and alternative treatment options. When cognitive impairment did not allow to inform the patient in a for her understandable language, written informed consent was obtained from the patient’s legal representative to perform a hysterectomy (with BSO) and to use patient data anonymously for research purposes. Prior to surgery, these cases were individually discussed before the hospital’s institutional review board (IRB) after written consent by the legal guardian and with motivational letters from two independent gynaecologists and the patient’s general practitioner.
On the role of the frontal projection in videoradiography of velopharynx in decision-making for a velopharyngeal flap plasty in patients with cleft palate
Published in Journal of Plastic Surgery and Hand Surgery, 2020
Frida Appelros, Magnus Becker, Hanna Salé, Henry Svensson
Two children with syndromes reducing cognitive function had to be excluded as they were not able to adequately participate in the pre-operative videoradiography or the post-operative follow-up. Children with other syndromes or additional malformations, for instance the Pierre Robin sequence, Klippel–Feil and hemifacial microsomia, were included as these conditions have no negative impact on cognitive functions. 22q11 deletion syndrome and Dubowitz syndrome may affect cognitive function but, in our study, patients with these syndromes were able to participate in an adequate way and could therefore be included.