Keywords:
Genetic defects, Congenital, Medico-legal issues, Conventional radiography, Paediatric, Extremities, Bones
Authors:
L. H. L. De Beuckeleer, K. Carpentier, M. Pouillon; Antwerp/BE
DOI:
10.1594/essr2014/P-0042
Methods and Materials
A female newborn,
born at 42 weeks of gestational age out of consanguineous parents,
presents with a huge scalp defect and dysmorphic "amputated" fingers and hypoplastic nails.
The baby showed a normal anterior fontanel,
covered by normal skin.
The posterior fontanel however was large and solely covered by a white-greyish thin membrane with erythematous borders,
measuring 1 by 2 cm.
Clinical examination depicts at the right hand dysplastic second to fifth fingers with normal metacarpals but no phalangeal structures.
The right thumb is hypoplastic,
but a normal grip between fingers and thumb is seen.
At the left hand,
proximal phalangeal structures are rudimentary.
Distal phalanges are absent.
The thumb at the left side is also hypoplastic. Both feet are dysmorphic.
Normal metatarsal bones are seen,
but phalangeal structures are absent.
The external genital structures are normally developed.
Clinical neurological examination is normal.
The newborn was transferred to a highcare neonatal unit for further diagnostic workup.
At the 2nd day of life, neurosurgical treatment of the uncovered posterior fontanel was performed.
An MRI examination of the brain,
a CT scan of the skull and plain radiographs of both hands and forearms have been performed in the neonatal period.