Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Table 1

Phenotypic features recorded in different allied syndromes associated with del6p.

Phenotypic features	Our case	Reitscher-Schinzel: 3C	Axenfeld-Reiger	Larsen
Head
High forehead	+	+		+
Hydrocephaly		+	+
Scalp with bilateral ridges	+
Prominent occiput		+
Bilateral circular hair pattern	+
Posterior fontanelle closed	+
Anterior fontanelle		Large
Short neck	+			+
Face
Flat	+			+
Hypertelorism	+	+		+
Flat nasal bridge	+	+	+	+
Flat and short nose	+
Cleft palate/lip	High arched	+ lip/palate		+ palate
Low set ears	+	+		+
Malformed ears	+	+
Malformed ear without opening	+
Protruding tongue	+
Short stubby tongue	+
Glossoptosis	+
Down slanting palpebral fissures	+	+
Epicanthal fold	+
Broad philtrum	+	+
Micrognathia	+	+
Occular malformation	−	Coloboma	+	Iris coloboma
Glucoma	−	Inconsistent	+	+
Iris hypoplasia	−		+	−
Fundoscopy	Normal	Normal
Bow shaped mouth	−			+
Dental abnormalities	NR		+	+
Hands
Simian-like palmer crease	+, right hand
Microphallus	+
Spatulate thumbs with broad nails	−			+
Cylindrical fingers	−			+
Overriding fingers	−	+		+
Clinodactyly	+			+
Foot
Big gap between 1st and 2nd toe	+
Rocker bottom feet	+	+
Club foot varus or valgus	−			+
Genitalia
Micropenis	+
Hydrocele	+ Left sided
Hypospadius	−		+	+
Urogenital sinus	−			+
Pyloric stenosis	−			+
Anal atresia	−	+		+
Rectovaginal fistula	−	+
Systemic
Respiratory distress	+	+
ASD/VSD	+ ASD	ASD/VSD	CHD	−
Hydronephrosis	−	+ B/L		+
Cerebellar hypoplasia	−	+	+	−
Vomiting	+
Dilated ventricles	+
Joint laxity	−			+
Knee/hip dislocation	−			+
Scoliosis	−			+
Psychomotor retardation	+	+	+	+
Hearing loss	? +		+/−	+
Developmental delay	+	+		+
Growth retardation	+	+	+	+
Mental retardation	+	+	+	+
Convulsions	−	−
Immunodeficiency	+			+
Delayed speech	?+	+	+	+