By William Reardon
Dysmorphology is the research of congenital malformations and is likely one of the middle parts of scientific genetics. usually the 1st specialist seeing those beginning defects is a pediatrician, who notices, for instance, that the ears will be particularly low set. whereas in itself minor, this actual signal may perhaps point out a malformation that may be observed by means of different critical genetic problems. Does the signal, or does it now not, point out an underlying syndrome? that query is frequently rather tricky to reply to, and the texts which can relief in prognosis are hugely subtle and quite daunting for the practising pediatrician. the purpose of Reardon's new textual content is to supply a realistic approach to this case. In a layout utilizing a superior color representation of the commonest and such a lot elusive indicators at the left-hand web page and transparent, concise textual content descriptions at the correct, Reardon will create a distinct and beneficial advisor to picking those malformations and settling on their medical importance. Willie Reardon, a veteran OUP writer and eminent dysmorphologist, is well-suited to put in writing any such booklet, as a way to attract a large viewers of pediatricians, geneticists, genetic counselors, and embryologists.
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Extra resources for The Bedside Dysmorphologist
Nasal speech, delayed speech, a poor neonatal feeding history, and prolonged drooling may represent clues to pharyngeal incompetence, which attends many of these cases. The ﬁngers are often long and hyperextensible. Absent joint skin crease of the ﬁngers may be the clue to symphalangism, which, in the context of a large nasal tip and prominent nose should lead to examination of the wrists and ankles for carpal or tarsal fusion. An accompanying history of conductive deafness would seal a diagnosis of WL symphalangism syndrome, an autosomal dominant condition, justifying wider family inquiry and examination.
Examination of the hands generally shows long, tapering ﬁngers, perhaps with some excess joint laxity. Investigations to Consider Delayed bone age is common to both FAS and Floating-Harbor syndromes, the diagnosis being clinical in both instances. Chromosomal examination, speciﬁcally of 8q24, may disclose a localized deletion in TRP syndrome. Granulocytopenia is a useful supportive clue to the diagnosis of Cohen syndrome. 13A and B The patients shown in these illustrations both demonstrate smooth philtrum and thin upper lip, in both these instances associated with fetal alcohol syndrome.
Likewise, look for a compensatory backward tilt of the head. The palpebral ﬁssure may be somewhat short and, in a minority of cases, there can be developmental delay. Be aware that some children can be diagnosed with developmental delay prematurely and surgical intervention for ptosis can result in developmental catch-up. Epicanthic folds are well known through the association with Down syndrome, but are nonspeciﬁcally observed in a whole range of chromosomal aneuploidies, all of which will give rise to developmental concerns.
The Bedside Dysmorphologist by William Reardon