is a medical condition in which babies are born with a 'floppy' head, owing to the fact that they have less to no control over their neck muscles.
In our patient, other common features were hypotonia
(reported in 90% of the patients) and sleep disturbances (reported in 50% of the patients).
Clinical Features###+ Hypotonia###+ Hypotonia###+ Hypotonia###+ Hypotonia
(%) Mental Retardation 23 (92) 5 (18) 28 Low Set Ears 22 (92) 02 (8) 24 Upslanting Eyes 20 (71) 04 (29) 28 Downslanting Eyes 06 (86) 01 (14) 07 Epicanthic Folds 23 (96) 01 (04) 24 Micrognathia 03 (60) 02 (40) 05 Flat Nasal Bridge 18 (82) 04 (18) 22 Simian Crease 21 (95) 1 (05) 22 Clinodactyly 14 (93) 1 (07) 15 Overriding Toes/Fingers 10 (77) 3 (23) 13 Microcephaly 11 (73) 4 (27) 15 Hypotonia
25 (89) 3 (11) 28 Hypertelorism 8 (67) 4933) 12 Cleft Lip 1 (33) 2 (67) 3 Cleft Palate 1 (33) 2 (67) 3 Table 2.
Neurological manifestations reported in WDSTS include intellectual disability and psychomotor development delay that are present in 100% of patients, and hypotonia
, which can be found in 66.7%.
This study of 90 patients with PWS, drawn from a geographically defined area over a 25-year period, confirms and extends existing knowledge of the prenatal, perinatal and postnatal features of PWS, the dominant trait being presence of hypotonia
. It should be noted that our study is confined to describing only those infants whose hypotonia
was caused by PWS so that the prevalence of neonatal hypotonia
in Scotland during the study period and hence the proportion of those hypotonic infants who actually had PWS is unknown.
Comparison of the phenotypic manifestations in the current case with those of 9p deletion syndrome and 3p duplication syndrome Current case 9p Deletion 3p Duplication syndrome syndrome Flat occiput + - High forehead + + Full cheeks - + Microretrognathia + + Short, broad neck + + Hypertelorism + + Upslanting palpebral fissure + - Bilateral epicanthal fold + + Small nose - + Wide and flat nasal bridge + + Long philtrum + - Small mouth + - Downturned corners, mouth - + Widely spaced nipples + + Hypotonia
+ + Congenital heart defect + +
, ataxia, and dysmorphic facial features were major clinical findings of this patient.
The classical triad in infantile CD in early childhood is hypotonia
, macrocephaly, and head lag (4).
In this study we thus aimed to allow clinicians, as Watkins  expresses, "to take responsibility not only for handling difficult situations but, in particular, for managing the uncertainties which feature in so many clinical encounters." We present the output of a multiphased study in the form of an EBCA towards assisting clinicians towards more accurate decisions in approaching the clinical assessment of hypotonia
Most patients described within the literature have developmental delay, macrocephaly, and hypotonia
with dysmorphic features [2-10].
At birth, early signs are hypotonia
and feeding problems.