DYSMORPHIC FEATURES AND MENTAL RETARDATION

Authors - Minakshi Vashist, Ritu Yadav, Neelkamal, Radha Rathee, Kirti.

INTRODUCTION

• Mental retardation is a common disorder, which imposes a large medical,

psychological and social burden. It affects about 3% of the population, yet the
pathogenesis is poorly understood (Birch et al., 1970 and Curry et al., 1997).

• Genetic disorders are responsible for a variety of birth defects, chronic diseases
and a high percentage of mental retardation. Most genetic disorders are difficult
to diagnose but a patient’s physical features and family medical history can
provide valuable clues and might indicate the presence of a genetic disorder.

• These features may appear anywhere on the body but are most commonly found
in areas of variability, such as face, hands and feet. These features include
microcephaly or small head size, cleft lip or palate, and other severe features.

• Presence or absence of unusual dysmorphic features help in further investigation

of mentally retarded cases. In large groups of patients, the number of two or
more dysmorphic features was found high (39.4% - 44.5%) to very high (55.0%-
81.9%) (Shevell et al., 2000).

• A need for more standardization of reporting dysmorphological examinations was

emphasized. The presence of dysmorphic features and positive family history of
mental retardation indicate that 30-50% of undiagnosed cases may fall to
moderate and severe category (Fryns, 1990).

• The utility of a dysmorphological examination was difficult to evaluate. The main

reason was that very limited number of studies reported on the specific result of
such examination. Association of mental retardation and congenital malformation
has long been recognized.

• Necessary component of evaluation of child with idiopathic mental retardation is

a comprehensive dysmorphologic examination (Schaefer and Bodensteiner,
1992).
 OBJECTIVE

• Analysis of dysmorphic features and morphogenetic variation of mentally

retarded individuals.

MATERIAL AND METHODS

Questionnaire

• A Questionnaire has been developed for the general assessment of patients

including, history of prenatal, neonatal, postnatal disorders, congenital disorder,
details of severity of developmental delay, motor behaviour, associated
disorders, parental age etc.

Pedigree analysis
• A three generation pedigree with special attention to the presence of mental
retardation, congenital disorders and consanguinity has been prepared for each
mentally retarded patient.

Morphogenetic analysis

• Dysmorphic features of each patient were recorded and analyzed. For each
patient facial features, hand, feet, head, skin, head circumference etc. have been
recorded with help of ‘Questionnaire’.
• To study variability in dysmorphic features of mentally retarded patients,
photographs of various features were taken with the consent of parents and
guardians. Development of various milestones like head control, crawling, sitting,
standing, walking were recorded for each patient.

• Behavioral problems, speech delay, and occurrence of seizures were also noted.
Morphogenetic variation and developmental delay of mentally retarded patients
were statistically analyzed.
 RESULTS

• In present study five hundred mentally retarded patients from different districts of
Haryana state have been evaluated. There were 270 cases of moderate, 138
cases of mild mental retardation and 92 cases of severe mental retardation
(Table-1).

• An important role of dysmorphic features in Mental Retardation has been

established. 70% of mentally retarded cases revealed presence of one or the
other dysmorphic features.

• There were 30% of mentally retarded cases in which no dysmorphic features

were observed.

Head and face region

• Four types of head were found in the patients i.e. microcephaly, macrocephaly,
hydrocephaly and brachycephaly.
• Macrocephaly and microcephaly were present in equal frequency (1.6%),
whereas 1.2% patients showed hydrocephalus and 34% patients showed
brachycephaly.
• Constantly open mouth was prominent feature of mental retardation and it was
present in 65% patients. Flattened nasal bridge was present in 36.2% of mentally
retarded patient’s.
• Other abnormal features revealed variable frequency such as upturned nares in
12.8%, epicanthal fold in 34%, slanting palpebral fissure in 46%, flat occipital
region in 36%, fissured lips in 55%, and protruded tongue in 30.4% of mentally
retarded patients.
• Mottled skin with reddish rim was found in 23.2% patients. There were 9% cases
of mental retardation with abnormal enamel genesis.

Hand region
• Short Stubby hand was most prominent feature seen in mentally retarded
patients. Single transverse palm crease was found in 22% of cases.
 • Presence of hyper extensibility of fingers was seen in 6.2% patients and long and
thin tapered fingers in 3.4%cases.
• Partial syndactyly in 2nd and 3rd fingers and polydactyl were found in 2.4% of
mentally retarded patients.
Feet region
• Feet of 58% cases of mental retardation showed short 4th or 5th metatarsal. Most
recognizable features in feet was deep crease between 1st and 2nd toes, it was
present in 48% of mentally retarded patients.
• Wide gap between 1st and 2nd toes was found in 36 % cases. Broad and large big
toe was seen in 14.2 % patients.
• Polydactyly of toes and partial syndactyly of 2nd and 3rd toes was found in 1.6%
and 0.4% of mentally retarded patients respectively.

DISCUSSION

• Dysmorphic features of head and face region revealed constantly open mouth,
fissured lips, slanting palpebral fissure, flattened nasal bridge, epicanthal fold and
brachycephaly as features of common occurrence in the mentally retarded
patients (Figure-1).

• Prominent features of feet region were deep crease leading from angle 1 and 2
toe, short 4 or 5 metatarsals and short stubby hands and transverse palmer
crease in hand region (Figure-2).

• Patients of moderate mental retardation group revealed dysmorphic features in

39% cases, whereas mild and severe group revealed 14% and 17% cases
respectively (Table-1).

• Association of Mental retardation and congenital malformation has long been

recognized and necessary component of evaluation of child with idiopathic
mental retardation is a comprehensive dysmorphologic examination (Schaefer
and Bodensteiner, 1992).

• In large groups of patients, the number of two or more dysmorphic features found
was from high 39.4%, 44.5% and to very high 55.0%, 81.9%.
• A retrospective study of the diagnostics evaluation of 411 children with mental
retardation referred to university based genetics center between 1986 and
1997.The physical finding results in the patient were the most important factors in
determining whether or not a diagnosis was made.

• The diagnosis was more significant when patient have an unusual appearance
and number are small. The presence of a major malformation did not increase
the diagnostic rate (Hunter AG, 2000).

• A prospective study of 281 children for evaluation of developmental delay/mental

retardation was made. The etiologic was diagnosed in 150 (54%). The
dysmorphologic examination was contributory to diagnosis in 79% of cases and
essential in 62%.

• This study found that clinical history alone was diagnosis in 1 of 20 patients. The
basis of physical examination, diagnosis was established in 1 of 30 patients
(Karnebeek et al, 2002).

• The diagnosis of pathogenesis identified in 80% of all patients. Half were

diagnosed by history and physical examination alone (Battaglia and Carey,
2003).The diagnosis with global development delays was 63.3%.

• The utility of a dysmorphogical examination was difficult to evaluate. The main

reason was that very limited number of studies reported on the specific result of
such examination.

• Presence or absence of unusual features helps in investigation to steer further

diagnosis studies. The use of more specific and diagnostic approaches will lead
to better clarification of the etiology (Yoshifumi Kodama, 1982).
 CONCLUSION

It was very difficult to evaluate dysmorphogical features for the diagnosis of patients.
The main reason was that very limited number of studies reported on the specific
result of such examination. Many dysmorphogical features witch may be present or
absent helps in investigation of further diagnosis studies. The use of more specific
diagnostic approaches will lead to better clarification of the etiology.

REFERENCES

Battaglia, A. and Carey, J.C. 2003. Diagnostic evaluation of developmental delay/

mental retardation: an overview. Am. J. Med. Genet. 117:3-14.

Birch, H.G., Richerdson, S.A., Baird, D., Horobin, G. and Ilslay, R. 1970. Mental
subnormality in the community a clinical and epidemiological study. Baltimore: Willams
and Wilkins.

Curry, C.J., Stevenson, R.E. and Aughton, D. 1997. Evaluation of Mental retardation:
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Fryns, J.P., Volcke, P.H., Haspeslagh,M.,Beusen,L. and Van DenBerghe,H.1990.

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Hunter, A.G. 2000. Outcome of the routine assessment of patients with mental
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Schaefer, G.B. and Bodensteiner, J.B. 1992. Evaluation of the child with idiopathic
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Shevell, M.I., Majnemer, A., Rosenbaum, P. and Abrahamowicz, M. 2000. Etiologic

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Smith, D.W. and Bostian, K.E. 1963.Congential anomalies associated with idiopathic
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Table -1. Percentage frequency of mentally retarded patients showing
dysmorphic features
IQ level Dysmorphic features Normal clinical
features
Mild 14.0 13.6
Moderate 39.0 15.0
Severe 17.0 1.4
Total 70.0 30.0

Abnormal enamelogensis

Fissured lips

Flattened nasal bridge

Clinical features

Hydrocephalus

Microcephaly

Protruded tongue

Slanting palpebral fissure

Brachycephaly

0 10 20 30 40 50 60 70

% frequency

Figure 35: Clinical features of (Head and face) of

mentally retarded patients

Figure -1
 Evidence of abnormal enamelogenesis

Polyductyly of toes

Deep crease leading from angle of 1 and 2 toes

Clinical features

Wide gap between 1 and 2 toes

Short 4 or 5 metatarsals

Partial syndactyly 2 and 3 fingers

Long, thin tapered fingers

T ransverse palm crease

0 10 20 30 40 50 60 70

% frequency

Figure 36: Clinical features of (Hand and feet) of

mentally retarded patients

Figure -2