36 Dubowitz Syndrome
Dubowitz Syndrome 685
Growth retardation, microcephaly, high sloping fore- head, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears, eczema, mental retar- dation
Frequency: Rare (about 150 published cases).
Genetics
Autosomal recessive (OMIM 223370).
Clinical Features
• Intrauterine and postnatal growth retardation
• Mental retardation,behavioral problems,hyperac- tivity
• Sparse hair
• Microcephaly, high sloping forehead, small elon- gated facies, facial asymmetry, flat supraorbital ridges, hypoplastic lateral eyebrows
• Telecanthus, ptosis, blepharophimosis, short pal- pebral fissures, epicanthus
• Cleft palate, bifid uvula, submucous cleft palate
• Micrognathia
• Low-set ears
• Cryptorchidism, hypospadias
• Infantile eczema
Differential Diagnosis
• Fetal alcohol syndrome
• Bloom syndrome
• Smith-Lemli-Opitz syndrome
D
Fig. 36.1. Patient 1, age 11 years. High sloping forehead, tele- canthus, ptosis, blepharophimosis, short palpebral fissures, prominent nose, low-set ears
Fig. 36.2 a, b. Patient 2, age 13 years. Note microcephaly, with marked increase in digital markings
a
b
Dubowitz Syndrome 686
Fig. 36.3. aPatient 3, age 12 years.
bPatient 2, age 13 years. The iliac wings are of similar width as the basilar portions of the iliac bones.
The femoral necks are in valgus position
a
b
Radiographic Features Skull
• Microcephaly Extremities
• Clinodactyly of 5th fingers
• Preaxial polydactyly
• Cutaneous syndactyly of 2nd and 3rd toes
• Pes planus
• Periosteal sclerosis of long bones Pelvis
• Narrow iliac bones
• Coxa valga
Generalized Bone Defects
• Retarded bone age
Bibliography
Grosse R, Gorlin RJ, Opitz JM. The Dubowitz syndrome.
Z Kinderheilkd 1971; 110: 175–87
Kuster W, Majewski F. The Dubowitz syndrome. Eur J Pediatr 1986; 144: 574–8
Moller KT, Gorlin RJ. The Dubowitz syndrome: a retrospective.
J Craniofac Genet Dev Biol 1985; Suppl 1: 283–6
Orrison WW, Schnitzler ER, Chun RWM. The Dubowitz syn- drome: further observations. Am J Med Genet 1980; 7:
155–70
Tsukahara M, Opitz JM. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996; 63: 277–89
Winter RM. Dubowitz syndrome. J Med Genet 1986; 23: 11–3
Dubowitz Syndrome 687
D
Fig. 36.4. Patient 2, age 13 years.
Note mild shortening of the mid- dle phalanx of the 5th finger, and bilateral 5th finger clinodactyly
Fig. 36.5. Patient 2, age 13 years. There is partial cutaneous syndactyly between toes 2 and 3
