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Upper limb defects with shortening. On the right upper limb three metacarpal bones, three phalanges and lack of forearm are observed. Left limb consists of metacarpal bones and shortened humerus, no forearm bones and phalanges
Source publication
Objectives:
Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination.
Maretial and metho...
Context in source publication
Context 1
... through caesarean section indicated by congenital fetus defect. Neonate's body mass was 2540 grams (> 10 c.), head circumference 32 cm (10 c.), body length 51 cm (90 c.). Apgar score was 7 points in first and 8 points in fifth minute of life. In physical examination and X-ray congenital upper limb defects with significant shortening were observed (Fig. 2). On the right three metacarpal bones, three phalanges and lack of forearm bones can be seen. Left limb consists of metacarpal bones and shortened humerus, but there are no forearm bones and phalanges. These defects were described in prenatal assessment. Considering syndrome associated cardiovascular disorders and the presence of heart ...
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Background and aim
To investigate whether neonates with prenatally detected congenital heart defects (CHD) demonstrate cerebral abnormalities on early preoperative cranial ultrasound (CUS), compared to healthy neonates, and to measure brain structures to assess brain growth and development in both groups.
Study design, subjects and outcome measure...
Citations
... Se puede encontrar como un hallazgo al asociarse en el ultrasonido genético defecto cardiovascular con malformación de miembros superiores que hace pensar en este síndrome. (10) En Cuba no contamos con diagnóstico molecular para este síndrome malformativo por lo que resulta de vital importancia estudiar cada caso en particular, así como sus familiares utilizando el método de clínico o de patrón para delinear bien el fenotipo. Llegar al diagnóstico clínico permite tomar conductas oportunas e informar a las familias de la posible morbilidad y mortalidad de estos pacientes, dependiendo de la gravedad de la cardiopatía congénita, que en su mayoría requieren intervención de urgencia. ...
Introducción:
el síndrome de Holt-Oram es una enfermedad hereditaria de baja frecuencia, con amplia heterogeneidad clínica. Se caracteriza por el defecto esquelético en los miembros superiores, de grado variable y asimétrico, asociado a cardiopatías congénitas.
Información del paciente:
se presenta un niño de cuatro años, con diagnóstico clínico de síndrome de Holt-Oram, que presenta acortamiento del miembro superior izquierdo, cardiopatía congénita y atresia esofágica; es el primer afectado en su familia, por lo que se consideró que se produjo por nueva mutación.
Conclusiones:
por lo poco usual de la presentación de este síndrome asociado a malformación digestiva resultó difícil llegar el diagnóstico clínico, para el que fue de gran valor el método clínico o de patrón. Resultó necesaria la interconsulta del caso con otros investigadores; no se pudo efectuar el estudio molecular. Es importante llegar al diagnóstico clínico de la enfermedad genética para poder brindar un adecuado asesoramiento genético a la familia.
... Offspring of an affected individual are at a 50% risk of being affected [11]. Prenatal diagnostics play a vital role as early prenatal identification of congenital defects allows parents to establish whether to terminate the pregnancy or to adequately plan labour and ensure early neonatal specialist input [12]. Through genetic counselling, we can also ascertain the risk of repeating defects in the family, which is a vital element of primary prevention [13]. ...
Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in diagnosis. We describe an interesting incidental diagnosis of Holt-Oram syndrome in a young female adult who accompanied her son to the clinic. He had undergone closure of both atrial septal defect (ASD) and patent ductus arteriosus (PDA) in his infancy. She reported progressive exertional dyspnoea, reduced exercise tolerance, and palpitations; incidentally, she was noted to have right upper limb deformities. These findings prompted further evaluation and thereafter, resulted in a diagnosis of Holt-Oram syndrome.
... Offspring of an affected individual are at a 50% risk of being affected. In pregnancies at 50% risk, detailed highresolution prenatal ultrasound [7] CONCLUSION Even though Holt-Oram syndrome is a rare disorder, limb anomalies and cardiac lesions can be detected during antenatal screening so it is advised to go through regular ANC visits. If it is detected early termination is advisable. ...
The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome
