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Hand Abnormalities
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Polydactyly is a common isolated finding with an excellent prognosis. Associated features suggest a diagnosis such as a trisomy, skeletal dysplasia, Meckel–Gruber, and Smith–Lemli–Opitz syndromes. Missing or prematurely foreshortened digits are characteristic of amniotic band syndrome and terminal transverse limb defects. A split-hand or ‘lobster-claw’ deformity is suggestive of ectrodactyly.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Most isolated bilateral cases of ectrodactyly follow autosomal dominant inheritance. A number of families exist in which multiple affected sibs born to healthy parents have gone on to have affected children themselves. Autosomal recessive inheritance and lack of penetrance seem unsatisfactory explanations, and it is likely that germinal mosaicism is operating (see Chapter 2). This means that affected individuals have a high risk of producing affected children, even if the family pattern appears to be autosomal recessive. An important syndrome to recognise is the EEC (ectrodactyly, ectodermal dysplasia, cleft lip and palate) syndrome, also autosomal dominant. Cytogenetic anomalies of chromosome 7q are sometimes associated with ectrodactyly.
Ulnar club hand
Published in Benjamin Joseph, Selvadurai Nayagam, Randall Loder, Ian Torode, Paediatric Orthopaedics, 2016
Hand anomalies seen in ulnar club hand vary and they do not correlate to the severity of the forearm deformity. The hand anomalies include absent fingers (ectrodactyly) and syndactyly. Although the main deficiency is on the ulnar (post-axial) border, a significant proportion of children with ulnar club hand have thumb anomalies. On account of this it has been suggested that in addition to classifying the nature of the ulnar defect, it is probably as important to classify these cases on the basis of the severity of the thumb anomaly.3
Central Diabetes Insipidus in an Infant with Pneumococcal Meningitis
Published in Fetal and Pediatric Pathology, 2019
Seda Aydogan, Dilek Dilli, Ahmet Ozyazıcı, Emin Cakmakci, Ece Koyuncu, Ayşegül Zenciroğlu
In the neonatal period, CDI has been related to CNS malformations in most of the cases [15]. Ozaydın [9] presented a patient with ectrodactyly and cleft lip/palate syndrome who developed CDI. This case had a history of recurrent hypernatremic attacks and was treated with oral desmopressin succesfully. Ferlin and colleagues [7] reported a preterm newborn who presented with dehydration and CDI. They confirmed the diagnosis with nasal desmopressin test. Their patient was discharged with nasal desmopressin at age of 3.5 months.
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies
Published in Ocular Immunology and Inflammation, 2020
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez, Carina Paola Rinaudo, Pablo Chiaradía
The Ectrodactyly, Ectodermal dysplasia, Cleft lip, and palate (EEC) syndrome is another form of ED. It consists of an association of ectodermal dysplasia, cleft lip and/or palate, and a clefting deformity of the hands and/or feet (“lobster claw deformity”).